ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)

dbSNP: rs17215500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045995 SCV000074008 pathogenic Long QT syndrome 2023-02-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 518 of the KCNQ1 protein (p.Arg518Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of long QT syndrome (PMID: 16414944, 21511995, 24363352; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 52991). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ1 protein function. For these reasons, this variant has been classified as 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
Ambry Genetics RCV004017348 SCV004849042 uncertain significance Cardiovascular phenotype 2016-06-02 criteria provided, single submitter clinical testing The c.1552C>G (p.R518G) alteration is located in exon 12 (coding exon 12) of the KCNQ1 gene. This alteration results from a C to G substitution at nucleotide position 1552, causing the arginine (R) at amino acid position 518 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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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