ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.1983delC

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000826169 SCV000967708 likely pathogenic Congenital long QT syndrome 2017-10-20 criteria provided, single submitter clinical testing The p.Ile662SerfsX52 variant in KCNH2 has not been reported in individuals with long QT syndrome (LQTS) or in large population studies. This variant is predicte d to cause a frameshift, which alters the protein?s amino acid sequence beginnin g at position 662 and leads to a premature termination codon 52 amino acids down stream. This alteration is then predicted to lead to a truncated or absent prote in. In summary, although additional studies are required to fully establish its clinical significance, the p.Ile662SerfsX52 variant meets criteria to be classif ied as likely pathogenic for autosomal dominant LQTS based upon the predicted im pact to the protein and its absence from the general population. ACMG/AMP criter ia applied: PVS1, PM2.

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