ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1394-6C>A

dbSNP: rs759714698
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001840977 SCV001353649 uncertain significance Cardiac arrhythmia 2022-12-21 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -6 position of intron 10 of the KCNQ1 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/282762 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001732067 SCV001983426 uncertain significance not specified 2021-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033365 SCV003612327 uncertain significance Cardiovascular phenotype 2022-04-19 criteria provided, single submitter clinical testing The c.1394-6C>A intronic alteration consists of a C to A substitution 6 nucleotides before exon 11 of the KCNQ1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003770090 SCV004659409 likely benign Long QT syndrome 2023-12-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003770090 SCV004815269 uncertain significance Long QT syndrome 2023-12-15 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -6 position of intron 10 of the KCNQ1 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/282762 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.