ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=)

gnomAD frequency: 0.00001  dbSNP: rs762744089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436013 SCV000525579 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058919 SCV002485450 likely benign Familial hemiplegic migraine 2024-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418286 SCV002720330 likely benign Inborn genetic diseases 2018-01-05 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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