ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln)

dbSNP: rs757310141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710693 SCV000840978 likely pathogenic not provided 2019-07-10 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because there are too few occurrences in population data. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253026 SCV001428541 pathogenic Migraine, familial hemiplegic, 2 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861950 SCV002228435 pathogenic Familial hemiplegic migraine 2022-02-03 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: 17435187, 20720542). 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: 585462). This missense change has been observed in individuals with clinical features of autosomal dominant familial hemiplegic migraine (PMID: 17435187; Invitae). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1002 of the ATP1A2 protein (p.Arg1002Gln).

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