ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1348C>T (p.Gln450Ter) (rs1563160541)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760478 SCV000890367 likely pathogenic not provided 2018-03-05 criteria provided, single submitter clinical testing The Q450X variant in the KCNH2 gene has been reported in association with LQTS (Kapplinger et al., 2009); however, additional clinical information and segregation details were not provided. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the KCNH2 gene have been reported in Human Gene Mutation Database in association with LQTS (Stenson et al., 2014). Furthermore, the Q450X variant is not observed in large population cohorts (Lek et al., 2016). In summary, Q450X in the KCNH2 gene is interpreted as a likely pathogenic variant.

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