Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313335 | SCV000739027 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-28 | criteria provided, single submitter | clinical testing | The p.R2094W variant (also known as c.6280C>T), located in coding exon 49 of the FBN2 gene, results from a C to T substitution at nucleotide position 6280. The arginine at codon 2094 is replaced by tryptophan, an amino acid with dissimilar properties, and is located in the TGFBP #06 domain. 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. |