Total submissions: 8
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 |
RCV000467261 | SCV000551006 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
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, |
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, |
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. |
Prevention |
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). |