ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2077_2078dup (p.Pro694fs) (rs1554424079)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529822 SCV000627474 pathogenic Long QT syndrome 2018-07-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1034Glyfs*24) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual referred for testing for long QT syndrome (PMID: 15840476). This variant is also known as 3098_3099insCG in the literature. ClinVar contains an entry for this variant (Variation ID: 456919). 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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