Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310933 | SCV000319542 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-26 | criteria provided, single submitter | clinical testing | The p.R2330K variant (also known as c.6989G>A), located in coding exon 55 of the FBN2 gene, results from a G to A substitution at nucleotide position 6989. The arginine at codon 2330 is replaced by lysine, an amino acid with highly 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 variant remains unclear. |
Invitae | RCV001859454 | SCV002130581 | benign | Congenital contractural arachnodactyly | 2022-03-18 | criteria provided, single submitter | clinical testing |