ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe)

dbSNP: rs2123457694
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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 RCV001916440 SCV002179883 uncertain significance Long QT syndrome 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 82 of the KCNE1 protein (p.Ile82Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with long-QT syndrome (PMID: 27871843). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV004779188 SCV005393515 not provided Long QT syndrome 5 no assertion provided in vitro

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