Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774218 | SCV000907919 | likely benign | Cardiomyopathy | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001352033 | SCV001546556 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-05-22 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This sequence change affects codon 626 of the DSG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSG2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs771576658, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 629509). 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003117562 | SCV003800899 | uncertain significance | not specified | 2023-01-14 | criteria provided, single submitter | clinical testing |