ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg)

dbSNP: rs1553245771
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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 Inc RCV000518121 SCV000612438 pathogenic not provided 2015-01-21 criteria provided, single submitter clinical testing
Invitae RCV000688730 SCV000816353 pathogenic Familial hemiplegic migraine 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 715 of the ATP1A2 protein (p.Gly715Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hemiplegic migraine (PMID: 21352219; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 446869). 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. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000518121 SCV001871367 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27818813, 23671257, 22067897, 18184292, 35658369, 21352219, 34229663)

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