ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser)

dbSNP: rs2144377666
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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 RCV001367320 SCV001563667 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2020-09-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 308 of the KCNJ2 protein (p.Thr308Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNJ2-related conditions. 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. 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.

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