ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2053del (p.Arg685fs) (rs794728500)

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 RCV000182059 SCV000234362 pathogenic Cardiac arrhythmia 2012-02-10 criteria provided, single submitter clinical testing The c.2053delC mutation in the KCNH2 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Arginine 685, changing it to an Alanine, and creates a premature stop codon at position 29 of the new reading frame, denoted p.R685AfsX29. This mutation is expected to result in an abnormal, truncated protein from this alleles due to mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. The variant is found in LQT panel(s).

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.