ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.387C>G (p.Phe129Leu) (rs764831888)

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 RCV000181754 SCV000234057 pathogenic not provided 2014-07-03 criteria provided, single submitter clinical testing The F129L mutation in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The F129L mutation 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. Nevertheless, a mutation at this same residue (F129I) and mutations in nearby residues (M124T, M124R, F125C, E130K, P141L) have been reported in association with LQTS, supporting the functional significance of this residue and this region of the protein. F129L results in a semi-conservative amino acid substitution of a non-polar Phenylalanine residue at a position that is conserved across species. Consequently, in silico analysis predicts this change to be possibly damaging to protein structure/function. 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.