ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.1129-832_3108dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.