ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1946-2A>C (rs794728488)

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 RCV000182039 SCV000234342 pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing The IVS7-2 A>C mutation in KCNH2 has not been reported previously in association with LQTS to our knowledge, this mutation alters the canonical splice acceptor site in intron 7 and is expected to cause abnormal gene splicing. In silico analysis using different splice algorithms predicts that this mutation destroys the splice acceptor site. This may lead to loss of protein function due to protein truncation or absence of protein from this allele due to mRNA decay. Other splice site site 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.