Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314286 | SCV000738729 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-25 | criteria provided, single submitter | clinical testing | The p.Q227R variant (also known as c.680A>G), located in coding exon 9 of the COL5A2 gene, results from an A to G substitution at nucleotide position 680. The glutamine at codon 227 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |