ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1707C>G (p.Tyr569Ter) (rs777831008)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578684 SCV000681340 pathogenic not provided 2018-01-15 criteria provided, single submitter clinical testing The Y569X variant in the KCNH2 gene has not been reported as a pathogenic or benign to our knowledge. 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 Y569X variant is not observed in large population cohorts (Lek et al., 2016).

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