ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)

dbSNP: rs1554431441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631592 SCV000752674 pathogenic Long QT syndrome 2018-01-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu23*) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with KCNH2-related disease. Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000631592 SCV000987437 likely pathogenic Long QT syndrome criteria provided, single submitter clinical testing

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