Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181201 | SCV000233479 | uncertain significance | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001044064 | SCV001207838 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-08-11 | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 199797). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs774208829, gnomAD 0.02%). This sequence change falls in intron 3 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. It affects a nucleotide within the consensus splice site. |
Color Diagnostics, |
RCV001189658 | SCV001356989 | uncertain significance | Cardiomyopathy | 2022-06-07 | criteria provided, single submitter | clinical testing | This variant causes an A>C nucleotide substitution at the +3 position of intron 3 of the DSG2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/31396 chromosomes 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. |
Ambry Genetics | RCV002426869 | SCV002731294 | uncertain significance | Cardiovascular phenotype | 2024-08-27 | criteria provided, single submitter | clinical testing | The c.216+3A>C intronic variant results from an A to C substitution 3 nucleotides after coding exon 3 in the DSG2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002492799 | SCV002777358 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-08-31 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996611 | SCV004826193 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2023-11-28 | criteria provided, single submitter | clinical testing |