ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2380G>A (p.Val794Ile) (rs565006344)

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 RCV000181853 SCV000234156 uncertain significance not provided 2013-10-30 criteria provided, single submitter clinical testing p.Val794Ile (GTC>ATC): c.2380 G>A in exon 9 of the KCNH2 gene (NM_000238.2)The Val794Ile variant in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Val794Ile results in a conservative amino acid substitution of one non-polar amino acid with another at a position that is conserved across species. In silico analysis predicts Val794Ile is probably damaging to the protein structure/function. Mutations in nearby residues (Ile789Thr, Arg791Trp, Gly800Trp) have been reported in association with LQTS, supporting the functional importance of this region of the protein. The Val794Ile variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.With the clinical and molecular information available at this time, we cannot definitively determine if Val794Ile is a disease-causing mutation or a rare benign variant. 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.