ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.685C>T (p.Gln229Ter) (rs397508072)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045950 SCV000073963 pathogenic Long QT syndrome 2015-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 356 (p.Gln356*). It is expected to result in an absent or disrupted protein product. Truncating variants in KCNQ1 are known to be pathogenic (PMID: 19862833). This particular truncation has been reported in the literature in individuals affected with Long QT syndrome (PMID: 10973849, 18239739, 19716085, 21350584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000182167 SCV000234470 pathogenic not provided 2018-12-05 criteria provided, single submitter clinical testing The Q356X variant in the KCNQ1 gene has been reported in association with LQTS (Splawski et al., 2000; Chung et al., 2007; Kapplinger et al., 2009). This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Additionally, Q356X occurs in the C-terminal region of the protein, where other nonsense variants have been reported in association with LQTS (Splawski et al., 2000). Finally, the Q356X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678957 SCV000805172 pathogenic Long QT syndrome 1 2018-05-05 criteria provided, single submitter clinical testing

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