ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2319C>T (p.Ile773=)

gnomAD frequency: 0.00002  dbSNP: rs764544114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487633 SCV001692128 likely benign Familial hemiplegic migraine 2022-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740704 SCV005363447 likely benign ATP1A2-related disorder 2024-03-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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