Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002342265 | SCV002638600 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-09-03 | criteria provided, single submitter | clinical testing | The p.P153R variant (also known as c.458C>G), located in coding exon 5 of the COL3A1 gene, results from a C to G substitution at nucleotide position 458. The proline at codon 153 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
All of Us Research Program, |
RCV004005666 | SCV004826978 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-04-27 | criteria provided, single submitter | clinical testing |