ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1129-831_3109dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691645 SCV000819431 likely pathogenic Long QT syndrome 2018-07-03 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 6-13 of the KCNH2 gene (c.1129-832_3108dup). The duplicated copy of this region is in tandem and results in an absent or disrupted protein product. 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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