ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1074C>T (p.Asn358=)

dbSNP: rs1558005822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318173 SCV000851400 likely benign Inborn genetic diseases 2017-02-21 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 RCV003768158 SCV004674691 likely benign Familial hemiplegic migraine 2024-06-04 criteria provided, single submitter clinical testing

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