ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1983G>A (p.Trp661Ter) (rs121912509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181905 SCV000234208 pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The W1001X variant has been reported in 20 individuals with LQTS (Moss et al., 2002); however, the nucleotide substitution was not specified. A different nucleotide substitution resulting in W1001X (c.3002 G>A) has also been reported in 5 individuals referred for LQTS genetic testing (Kapplinger et al., 2009). Minigene analysis shows that W1001X (nucleotide substitution not specified) results in a significant decrease in mRNA levels due to nonsense-mediated mRNA decay (Gong et al., 2007). Furthermore, the W1001X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server) and multiple other nonsense variants in the KCNH2 gene have been reported in Human Gene Mutation Database in association with LQTS (Stenson et al., 2014).
OMIM RCV000015512 SCV000035777 pathogenic Long QT syndrome 2 2002-07-26 no assertion criteria provided literature only

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