ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)

dbSNP: rs1131692183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001856987 SCV002171118 pathogenic Long QT syndrome 2022-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 430730). This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg894Alafs*82) in 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 (PMID: 10973849, 19862833).
Institute of Human Genetics, University of Goettingen RCV000495854 SCV000583600 likely pathogenic Long QT syndrome 2 2017-07-17 no assertion criteria provided clinical testing Long OT syndrome

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