ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.461G>A (p.Trp154Ter) (rs1554428173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544265 SCV000627492 pathogenic Long QT syndrome 2017-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 154 (p.Trp154*) of the KCNH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNH2 are known to be pathogenic. This particular variant has been reported in one individual affected with long QT syndrome (PMID: 26496715). For these reasons, this variant has been classified as Pathogenic.

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