ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2003C>A (p.Ser668Ter) (rs749211387)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760518 SCV000890409 pathogenic not provided 2018-10-22 criteria provided, single submitter clinical testing The S668X pathogenic variant in the KCNH2 gene has previously been reported in two individuals from one family with LQTS; however, detailed clincial information was not provided (Itoh et al., 2016). S668X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Multiple other downstream nonsense variants in the KCNH2 gene have been reported in Human Gene Mutation Database in association with LQTS (Stenson et al., 2014). Furthermore, the S668X variant is not observed in large population cohorts (Lek et al., 2016).In summary, S668X in the KCNH2 gene is interpreted as a pathogenic variant.

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