ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.364dup (p.Cys122fs) (rs397508109)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182336 SCV000234639 pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing The c.364dupT pathogenic variant in the KCNQ1 gene (also reported as K121fs+162X, 365insT, Ins G 2025-2026, and K121fs/629 due to alternative nomenclature) has previously been reported in individuals referred for LQTS genetic testing (Tester et al., 2005; Kapplinger et al., 2009). The c.364dupT variant causes a shift in reading frame starting at codon cysteine 122, changing it to a leucine, and creating a premature stop codon at position 163 of the new reading frame, denoted p.Cys122LeufsX163. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other downstream frameshift variants in the KCNQ1 gene have been reported in Human Gene Mutation Database in association with LQTS and JLNS (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.364dupT variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Genetic Services Laboratory, University of Chicago RCV000193564 SCV000247662 pathogenic Long QT syndrome 1 2015-03-04 criteria provided, single submitter clinical testing

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