ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1746del (p.Pro583fs) (rs1554424403)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586952 SCV000696027 likely pathogenic Cardiovascular phenotype 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The KCNH2 c.2766delG (p.Pro923Argfs) variant results in a premature termination codon, predicted to cause a truncated or absent KCNH2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as likely pathogenic/pathogenic by our laboratory (e.g. c.2959_2960delCT (p.Leu987fs) and c.3107dupG (p.Asp1037fs). This variant is absent in 11608 control chromosomes (ExAC and publication controls). A publication, Tester_2005, cites the variant in an affected individual for LQTS. A functional study, Hsueh_2008, indicates the variant to cause reduced current amplitude and faster inactivation. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as "Likely Pathogenic."

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