ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1594C>G (p.Gln532Glu)

gnomAD frequency: 0.00016  dbSNP: rs575299887
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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 RCV001043835 SCV001207602 likely benign Familial hemiplegic migraine 2024-09-23 criteria provided, single submitter clinical testing
GeneDx RCV002307661 SCV002601258 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18184292)
Ambry Genetics RCV002552539 SCV003681614 likely benign Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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