ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.560T>G (p.Leu187Arg)

dbSNP: rs199473399
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046555 SCV001210460 uncertain significance Long QT syndrome 2019-05-30 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 disrupts the p.Leu187 amino acid residue in KCNQ1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18808722). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in an individual with clinical features of long QT syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 187 of the KCNQ1 protein (p.Leu187Arg). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and arginine.

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