ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile)

gnomAD frequency: 0.00012  dbSNP: rs139040374
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251523 SCV000319973 benign Cardiovascular phenotype 2023-12-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001047989 SCV001211976 uncertain significance Brugada syndrome 6 2023-04-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 9 of the KCNE3 protein (p.Thr9Ile). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 264211). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. This variant is present in population databases (rs139040374, gnomAD 0.03%).
Dept of Medical Biology, Uskudar University RCV003318372 SCV004022014 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BS2

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.