ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val)

dbSNP: rs2074389312
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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 RCV001324510 SCV001515465 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2020-04-22 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with valine at codon 262 of the KCNJ2 protein (p.Phe262Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine.

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