ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.1552C>G (p.Arg518Gly) (rs17215500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
Invitae RCV000045995 SCV000074008 uncertain significance Long QT syndrome 2018-02-28 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 reported in the literature in several individuals affected with long QT syndrome (PMID: 16414944, 24363352, 21511995). ClinVar contains an entry for this variant (Variation ID: 52991). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant identified in the KCNQ1 gene is located in the cytoplasmic C-terminal region of the resulting protein (PMID: 19841300, 25348405), but it is unclear how this variant impacts the function of this protein. 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.

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