ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=)

gnomAD frequency: 0.00003  dbSNP: rs760213030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433766 SCV000515368 likely benign not specified 2015-12-24 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.
Ambry Genetics RCV002311450 SCV000847207 likely benign Inborn genetic diseases 2016-07-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000716367 SCV002222276 likely benign Familial hemiplegic migraine 2024-07-15 criteria provided, single submitter clinical testing

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