ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg)

dbSNP: rs121918612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001533152 SCV002240707 pathogenic Familial hemiplegic migraine 2022-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ATP1A2 function (PMID: 19372756, 21398422). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 12922). This missense change has been observed in individuals with familial hemiplegic migraine (PMID: 15459825, 21398422). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 301 of the ATP1A2 protein (p.Gly301Arg).
OMIM RCV000013785 SCV000034032 pathogenic Migraine, familial hemiplegic, 2 2004-09-01 no assertion criteria provided literature only
GeneReviews RCV001533152 SCV001748970 not provided Familial hemiplegic migraine no assertion provided literature only Severe phenotype reported

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