ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=)

gnomAD frequency: 0.00024  dbSNP: rs149286529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733203 SCV000521735 likely benign not provided 2020-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318415 SCV000851126 likely benign Inborn genetic diseases 2016-07-28 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.
Eurofins Ntd Llc (ga) RCV000733203 SCV000861238 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000720249 SCV001009204 likely benign Familial hemiplegic migraine 2024-12-30 criteria provided, single submitter clinical testing

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