ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.76+2T>G (rs794728419)

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 RCV000181955 SCV000234258 pathogenic not provided 2012-08-06 criteria provided, single submitter clinical testing c.76+2 T>G:IVS1+2 T>G in intron 1 of the KCNH2 gene (NM_000238.2). Although the c.76+2 T>G mutation in the KCNH2 gene has not been reported previously, this mutation destroys the canonical splice donor site in intron 1 and is expected to cause abnormal gene splicing. This is predicted to lead to loss of protein function due to protein truncation or absence of protein from this allele due to mRNA decay. The c.76+2 T>G mutation has been observed previously in one other individual tested for LQTS at GeneDx. Other splice site mutations in the KCNH2 gene have been reported in association with LQTS.In summary, c.76+2 T>G in the KCNH2 gene is interpreted as a disease-causing mutation. 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.