ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)

gnomAD frequency: 0.00001  dbSNP: rs997406384
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827912 SCV000969583 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193333 SCV001362084 likely benign not specified 2019-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001435764 SCV001638590 likely benign Andersen Tawil syndrome; Short QT syndrome type 3 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390720 SCV002700011 likely benign Cardiovascular phenotype 2020-01-16 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.

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