ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe)

dbSNP: rs368406938
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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 RCV000815131 SCV000955577 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2018-11-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 356 of the KCNJ2 protein (p.Cys356Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNJ2-related disease.

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