ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.455C>T (p.Thr152Ile)

dbSNP: rs794728354
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
Invitae RCV001210577 SCV001382072 uncertain significance Long QT syndrome 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 152 of the KCNH2 protein (p.Thr152Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Brugada syndrome (PMID: 24400717). This variant has been reported to affect KCNH2 protein function (PMID: 24400717). 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.

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.