ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003072639 SCV003471450 uncertain significance Long QT syndrome 2022-07-04 criteria provided, single submitter clinical testing 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 tolerated. 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 affected with KCNE1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 15 of the KCNE1 protein (p.Lys15Glu).
Roden Lab, Vanderbilt University Medical Center RCV004779428 SCV005392859 not provided Long QT syndrome 5 no assertion provided in vitro

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