ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.942+3A>G

gnomAD frequency: 0.00004  dbSNP: rs1420051870
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
GeneDx RCV002508734 SCV002818058 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 23871674, 31402444, 21606396)
Color Diagnostics, LLC DBA Color Health RCV003533276 SCV004363107 uncertain significance Cardiomyopathy 2024-05-03 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the +3 position of intron 7 of the DSC2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least 1 individual affected with arrhythmogenic right ventricular cardiomyopathy/dysplasia (PMID: 21606396). This variant has been identified in 3/282790 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.
All of Us Research Program, National Institutes of Health RCV004808357 SCV005427487 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2024-05-14 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the +3 position of intron 7 of the DSC2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least 1 individual affected with arrhythmogenic right ventricular cardiomyopathy/dysplasia (PMID: 21606396). This variant has been identified in 3/282790 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.