ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) (rs17215500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045995 SCV000074008 likely pathogenic Long QT syndrome 2019-05-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 518 of the KCNQ1 protein (p.Arg518Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of long QT syndrome (LQTS) and has been observed to segregate with LQTS in families (PMID: 16414944, 24363352, 21511995, Invitae). ClinVar contains an entry for this variant (Variation ID: 52991). 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 C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000735257 SCV000863467 likely pathogenic Long QT syndrome 1 2018-07-04 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057592 SCV000089111 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16414944). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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