ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.290C>T (p.Thr97Met) (rs199472706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Genomics Laboratory,University of Maryland School of Medicine RCV000754820 SCV000882470 likely pathogenic Long QT syndrome 2017-12-21 criteria provided, single submitter clinical testing The c.671C>T variant in codon 224 (exon 5) of the potassium voltage-gated channel subfamily Q member 1 gene, KCNQ1, results in the substitution of Threonine to Methionine. Missense variants in the KCNQ1 gene are known to cause autosomal dominant hereditary long QT syndrome 1 (also known as Romano-Ward syndrome) and autosomal recessive Jervell and Lange-Nielsen syndrome (24667783, 15840476, 27761162). The c.671C>T variant was not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases, however the c.671C>T variant was previously reported in a patient with long QT syndrome (19716085 Multiple lines of computational evidence (MutationTaster, FATHMM, GERP, MetaSVM, MetalR, Provean, LRT, SIFT) predict this variant is probably damaging to the protein structure, function, or protein-protein interaction. The c.671C>T variant is located within a transmembrane region of the protein that has minimal benign variation among individuals in population databases and in the literature (27761162, 17227916). ACMG criteria = PS4, PM1, PM2, PP3
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057729 SCV000089248 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:19716085). 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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