Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313348 | SCV000739043 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-11-28 | criteria provided, single submitter | clinical testing | The p.S2401R variant (also known as c.7201A>C), located in coding exon 57 of the FBN2 gene, results from an A to C substitution at nucleotide position 7201. The serine at codon 2401 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well 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. |