Our verdict is Likely pathogenic. The variant received 7 ACMG points: 7P and 0B. PM2PP3_StrongPP5
The NM_001122764.3(PPOX):āc.1046A>Cā(p.Asp349Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. D349D) has been classified as Likely benign.
PPOX (HGNC:9280): (protoporphyrinogen oxidase) This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Our verdict: Likely_pathogenic. The variant received 7 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
PP3
MetaRNN computational evidence supports a deleterious effect, 0.986
PP5
Variant 1-161170467-A-C is Pathogenic according to our data. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr1-161170467-A-C is described in CliVar as Pathogenic. Clinvar id is 8698.Status of the report is no_assertion_criteria_provided, 0 stars.