ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.1212del (p.Asp405fs)

dbSNP: rs2074392185
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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 RCV001317828 SCV001508505 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2020-08-20 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 with KCNJ2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the KCNJ2 gene (p.Asp405Thrfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acids of the KCNJ2 protein.

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