ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.337C>G (p.Leu113Val)

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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 RCV002300053 SCV002590689 uncertain significance Long QT syndrome 2022-07-25 criteria provided, single submitter clinical testing 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 leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 113 of the KCNE1 protein (p.Leu113Val). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Roden Lab, Vanderbilt University Medical Center RCV004779286 SCV005393811 not provided Long QT syndrome 5 no assertion provided in vitro

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