Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703544 | SCV000515741 | likely benign | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000457361 | SCV000561389 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000441755 | SCV000711381 | likely benign | not specified | 2016-05-27 | criteria provided, single submitter | clinical testing | c.829-4G>A in intron 7 of DSG2: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 1/3660 African American chromosomes by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs376424003). |
Ambry Genetics | RCV000618425 | SCV000735838 | likely benign | Cardiovascular phenotype | 2024-12-02 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000441755 | SCV000917289 | uncertain significance | not specified | 2018-07-31 | criteria provided, single submitter | clinical testing | Variant summary: DSG2 c.829-4G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 6.5e-05 in 30968 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.829-4G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 with conflicting assessments, including uncertain significance (1x) and likely benign (3x). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Color Diagnostics, |
RCV001184559 | SCV001350568 | likely benign | Cardiomyopathy | 2019-01-06 | criteria provided, single submitter | clinical testing |