ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2218dup (p.Cys740fs) (rs1554425284)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543030 SCV000627452 pathogenic Long QT syndrome 2017-06-14 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 9 of the KCNH2 mRNA (c.2218dupT), causing a frameshift at codon 740. This creates a premature translational stop signal (p.Cys740Leufs*64) and 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 the literature in one individual affected with long QT syndrome (PMID: 10973849). This variant is also known as H739fs/63 in the literature. For these reasons, this variant has been classified as Pathogenic.

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