ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002947553 SCV003266571 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2021-12-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the KCNJ2 mRNA. It is expected to extend the length of the KCNJ2 protein by 26 additional amino acid residues.

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