ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.46-14A>G

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 RCV003051135 SCV003449312 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-03-18 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. This variant is present in population databases (rs373617074, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Color Diagnostics, LLC DBA Color Health RCV003533337 SCV004363149 uncertain significance Cardiomyopathy 2023-10-19 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the -14 position of intron 1 of the DSG2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA 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 2/280430 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 RCV004009324 SCV004839475 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-11-02 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the -14 position of intron 1 of the DSG2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA 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 2/280430 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.