ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)

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
Color Health, Inc RCV001524506 SCV001734380 likely pathogenic Arrhythmia 2020-10-13 criteria provided, single submitter clinical testing This variant deletes two nucleotides in exon 15 of the KCNQ1 gene, creating a frameshift in the penultimate exon. The mutant transcript is expected to escape nonsense-mediated decay and be expressed as a protein product containing an altered C-terminal sequence in the cytoplasmic coiled-coil domain (a.a. 588-622). The C-terminal cytoplasmic coiled-coil domain mediates tetramerization (PMID: 18165683, 19693805, 19825999) and formation of a functional channel (PMID: 10654932). This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of KCNQ1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Likely 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.