ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1637dup (p.Arg547fs) (rs1554424671)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631554 SCV000752636 pathogenic Long QT syndrome 2018-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg887Alafs*33) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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.

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