ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=)

gnomAD frequency: 0.00010  dbSNP: rs371520433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712224 SCV000521192 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000468608 SCV000556864 likely benign Familial hemiplegic migraine 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402139 SCV002705928 likely benign Inborn genetic diseases 2017-09-14 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.
CeGaT Center for Human Genetics Tuebingen RCV001712224 SCV002821439 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ATP1A2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003897867 SCV004712149 likely benign ATP1A2-related disorder 2023-03-21 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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