Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000644658 | SCV000766361 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-08-09 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781328 | SCV000919276 | benign | not specified | 2018-09-17 | criteria provided, single submitter | clinical testing | Variant summary: DSC2 c.2379C>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.6e-05 in 276820 control chromosomes, predominantly at a frequency of 0.00058 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 23-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in DSC2 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Latino origin. To our knowledge, no occurrence of c.2379C>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign. |
| Color Diagnostics, |
RCV001185028 | SCV001351157 | likely benign | Cardiomyopathy | 2020-01-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001566474 | SCV001789992 | likely benign | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002458082 | SCV002735926 | likely benign | Cardiovascular phenotype | 2022-09-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |