Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001188136 | SCV001355110 | likely benign | Cardiomyopathy | 2019-02-25 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This synonymous variant does not change the amino acid sequence of the DSP protein. However, computational splicing tools suggest that this variant may disrupt RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/246070 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. |
| Ambry Genetics | RCV002365877 | SCV002660341 | likely benign | Cardiovascular phenotype | 2020-10-28 | 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. |
| Invitae | RCV002560009 | SCV003462506 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-27 | criteria provided, single submitter | clinical testing |