Our verdict is Pathogenic. Variant got 14 ACMG points: 14P and 0B. PS1PM1PM2_SupportingPM5PP2PP3_ModeratePP5_Moderate
The NM_001127222(CACNA1A):c.4174G>T(p.Val1392Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Another nucleotide change resulting in same amino acid change has been previously reported as Pathogenicin ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1392A) has been classified as Likely pathogenic.
Verdict is Pathogenic. Variant got 14 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
Developmental and epileptic encephalopathy, 42
|Likely pathogenic, criteria provided, single submitter||clinical testing||Institute of Human Genetics, University of Leipzig Medical Center||Sep 09, 2020||This variant was identified as de novo (maternity and paternity confirmed). -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.