Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001216883 | SCV001388701 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-11-18 | criteria provided, single submitter | clinical testing | This sequence change affects codon 332 of the COL3A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL3A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COL3A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 946094). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |
Color Diagnostics, |
RCV001526070 | SCV001736345 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-05-26 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001216883 | SCV004826741 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-11-20 | criteria provided, single submitter | clinical testing |