ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) (rs199473457)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182100 SCV000234403 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing The Arg231Cys variant in the KCNQ1 gene has been reported in multiple individuals with LQTS (Emeriaud G et al., 2002; Fodstad H et al., 2004; Lupoglazoff J et al., 2004; Millat G et al., 2006; Kapplinger J et al., 2009; Bartos D et al., 2011). Arg231Cys was found in three infants with LQTS and fetal bradycardia, and this mutation occurred de novo in one of these infants (Lupoglazoff J et al., 2004). Arg231Cys results in a nonconservative amino acid substitution of a positively charged Arginine residue with a neutral, polar Cysteine residue at a position that is conserved in mammal. Variants affecting the same residue (Arg231His) and nearby residues (Gly229Asp, Ile235Asn) have been reported in association with LQTS, further supporting the functional importance of this codon and this region of the protein. Collectively, Arg231Cys was not observed in up to 3,200 alleles from control individuals (Fodstad H et al., 2004; Lupoglazoff J et al., 2004; Kapplinger J et al., 2009). According to the NHLBI Exome Sequencing Project, Arg231Cys also was not observed in approximately 6,500 individuals from Caucasian and African American ancestry, indicating it is not a common benign variant in these populations.
Center for Medical Genetics Ghent,University of Ghent RCV000240642 SCV000299261 likely pathogenic Long QT syndrome 1 2016-03-17 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000240642 SCV000583963 pathogenic Long QT syndrome 1 2017-01-12 criteria provided, single submitter research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057733 SCV000089252 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:12205790;PMID:14998624;PMID:15176425;PMID:16922724;PMID:19716085;PMID:19843919;PMID:20850564;PMID:22613981). 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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