ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr)

dbSNP: rs1979545359
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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 RCV001302151 SCV001491345 uncertain significance Long QT syndrome 6 2020-08-02 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 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 been observed in individual(s) with clinical features of KCNE2-related disease (PMID: 28794082). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 74 of the KCNE2 protein (p.Ser74Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.

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