ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1704G>A (p.Trp568Ter) (rs199472926)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181809 SCV000234112 pathogenic not provided 2015-11-13 criteria provided, single submitter clinical testing p.Trp568Stop (TGG>TGA):c.1704 G>A in exon 7 of the KCNH2 (aka HERG) gene (NM_000238.2)The Trp568Stop mutation in the KCNH2 gene has been reported in association with LQTS (Kapplinger J et al., 2009). This mutation was reported in one patient with LQTS and it was absent from 2,600 control alleles. The Trp568Stop mutation is predicted to cause loss of normal protein function either due to a prematurely truncated protein or absent protein product due to nonsense mediated mRNA decay. Other nonsense mutations in the KCNH2 gene have also been reported in association with LQTS.In summary, Trp568Stop mutation in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Ambry Genetics RCV000620895 SCV000738178 pathogenic Cardiovascular phenotype 2017-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Rarity in general population databases (dbsnp, esp, 1000 genomes)

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