ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.175G>A (p.Gly59Ser) (rs199473398)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779057 SCV000915522 uncertain significance Long QT syndrome 1 2018-12-17 criteria provided, single submitter clinical testing The KCNQ1 c.556G>A (p.Gly186Ser) variant is a missense variant that has been identified in a heterozygous state in ten individuals with long QT syndrome type I (Moss et al. 2007; Zareba et al. 2003). These patients were later described as displaying the Romano-Ward phenotype (Hedley et al. 2009). Control data are unavailable for this variant, and it is not reported in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database in a region of good sequencing coverage, suggesting it is rare. The p.Gly186Ser variant is located in a well-conserved amino acid residue in a transmembrane protein domain, and other variants affecting the same and nearby residues have also been reported in association with long QT syndrome. Based on the available evidence, the p.Gly186Ser variant is classified as a variant of unknown significance but suspicious for pathogenicity for long QT syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057699 SCV000089218 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:14678125;PMID:17470695;PMID:19862833). 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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