Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644645 | SCV000766348 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2023-06-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts a region of the DSC2 protein in which other variant(s) (p.Arg203Cys) have been observed in individuals with DSC2-related conditions (PMID: 21062920). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 536275). This variant has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 34393635). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.577_624del, results in the deletion of 16 amino acid(s) of the DSC2 protein (p.Gly193_Ser208del), but otherwise preserves the integrity of the reading frame. |
Color Diagnostics, |
RCV001187679 | SCV001354545 | uncertain significance | Cardiomyopathy | 2023-01-27 | criteria provided, single submitter | clinical testing | This variant results in the deletion of 16 amino acids of the DSC2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 34393635). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |