Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001128918.3(MARK3):c.1385G>A(p.Gly462Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
MARK3 (HGNC:6897): (microtubule affinity regulating kinase 3) The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Uncertain significance, criteria provided, single submitter
clinical testing
Ambry Genetics
Jun 27, 2023
The c.1385G>A (p.G462E) alteration is located in exon 13 (coding exon 13) of the MARK3 gene. This alteration results from a G to A substitution at nucleotide position 1385, causing the glycine (G) at amino acid position 462 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
.;.;Gain of catalytic residue at K463 (P = 0.0134);Gain of catalytic residue at K463 (P = 0.0134);.;Gain of catalytic residue at K463 (P = 0.0134);.;.;