ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)

gnomAD frequency: 0.00032  dbSNP: rs202063433
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208116 SCV000263857 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000467261 SCV000551006 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001507400 SCV000581801 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21636032)
Color Diagnostics, LLC DBA Color Health RCV001188678 SCV001355804 uncertain significance Cardiomyopathy 2023-05-02 criteria provided, single submitter clinical testing This missense variant replaces glutamine with proline at codon 731 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 30847666). This variant has been identified in 29/280828 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The relatively high frequency of this variant in the general population suggests that this variant is unlikely to be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001507400 SCV001712938 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415876 SCV002724920 likely benign Cardiovascular phenotype 2022-12-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000208116 SCV004821765 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing This missense variant replaces glutamine with proline at codon 731 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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 29/280828 chromosomes (27/24200 chromosomes from individuals with African ancestry) in the general population by the Genome Aggregation Database (gnomAD). The relatively high frequency of this variant in the general population suggests that this variant is unlikely to be disease-causing. However, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003917852 SCV004735351 likely benign DSG2-related disorder 2023-09-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.