ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2084del (p.Gln695fs) (rs794728501)

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
GeneDx RCV000182060 SCV000234363 pathogenic not provided 2012-03-01 criteria provided, single submitter clinical testing The c.2084delA pathogenic variant in the KCNH2 gene has not been reported previously, this variant causes a shift in reading frame starting at codon Glutamine 695, changing it to a Arginine, and creates a premature stop codon at position 19 of the new reading frame, denoted p.Q695RfsX19. This variant is expected to result either in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in association with LQTS.

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.