ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002890603 SCV003244246 uncertain significance Long QT syndrome 6 2021-12-17 criteria provided, single submitter clinical testing This variant, c.163_165dup, results in the insertion of 1 amino acid(s) of the KCNE2 protein (p.Val55dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is also known as A166G+169insATG. This variant has been observed in individual(s) with clinical features of long-QT syndrome (PMID: 16414944). This variant is present in population databases (rs756730160, gnomAD 0.005%).
Ambry Genetics RCV004065980 SCV005030918 uncertain significance Cardiovascular phenotype 2023-11-16 criteria provided, single submitter clinical testing The c.163_165dupGTG variant (also known as p.V55dup), located in coding exon 1 of the KCNE2 gene, results from an in-frame duplication of GTG at nucleotide positions 163 to 165. This results in the duplication of an extra residue between codons 55 and 56. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
GeneDx RCV004719276 SCV005325213 uncertain significance not provided 2024-03-11 criteria provided, single submitter clinical testing Reported as A166G+169insATG in a patient with Long QT syndrome (LQTS) in published literature (PMID: 16414944); Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 1 amino acid in a non-repeat region; This variant is associated with the following publications: (PMID: 16414944)

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.