ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2000G>A (p.Arg667His) (rs199473542)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695622 SCV000824133 uncertain significance Long QT syndrome 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1007 of the KCNH2 protein (p.Arg1007His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs199473542, ExAC 0.06%). This variant has been reported in individuals affected with sudden cardiac deaths or LQT2 associated disease (PMID: 22429796, 19716085). ClinVar contains an entry for this variant (Variation ID: 67463). Experimental studies have shown that this missense change does not disrupt binding of distal C-terminus and does not impact protein trafficking  (PMID: 25417810). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058191 SCV000089711 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085;PMID:22429796). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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.