ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.110G>C (p.Ser37Thr)

dbSNP: rs1290531137
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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 RCV001983242 SCV002244857 uncertain significance Long QT syndrome 2022-08-20 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1461085). 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 serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 37 of the KCNE1 protein (p.Ser37Thr).
Roden Lab, Vanderbilt University Medical Center RCV004779225 SCV005393077 not provided Long QT syndrome 5 no assertion provided in vitro

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