Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001496601 | SCV001701301 | likely benign | Congenital contractural arachnodactyly | 2023-03-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002329614 | SCV002627862 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-09-03 | criteria provided, single submitter | clinical testing | The p.T1428N variant (also known as c.4283C>A), located in coding exon 33 of the FBN2 gene, results from a C to A substitution at nucleotide position 4283. The threonine at codon 1428 is replaced by asparagine, an amino acid with similar properties. This amino acid position is 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. |