ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2083C>T (p.Gln695Ter) (rs1064794793)

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
GeneDx RCV000481174 SCV000569953 likely pathogenic not provided 2016-04-11 criteria provided, single submitter clinical testing The Q695X variant in the KCNH2 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. Q695X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other downstream truncating variants in the KCNH2 gene have been reported in HGMD in association with LQTS (Stenson et al., 2014). Furthermore, the Q695X likely pathogenic 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.
Invitae RCV000631681 SCV000752764 pathogenic Long QT syndrome 2017-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln695*) in the KCNH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNH2-related disease. ClinVar contains an entry for this variant (Variation ID: 420923). Loss-of-function variants in KCNH2 are known to be pathogenic (PMID: 19862833). For these reasons, this variant has been classified as Pathogenic.

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.