ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1735A>G (p.Lys579Glu)

gnomAD frequency: 0.00005  dbSNP: rs535175099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811915 SCV000952206 likely benign Familial hemiplegic migraine 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028750 SCV004913934 likely benign Inborn genetic diseases 2024-02-21 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.
PreventionGenetics, part of Exact Sciences RCV003975329 SCV004799566 uncertain significance ATP1A2-related disorder 2023-11-20 no assertion criteria provided clinical testing The ATP1A2 c.1735A>G variant is predicted to result in the amino acid substitution p.Lys579Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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