Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228916 | SCV001401344 | likely benign | Congenital contractural arachnodactyly | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002264237 | SCV002545344 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356980 | SCV002647427 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-12 | criteria provided, single submitter | clinical testing | The p.R1940Q variant (also known as c.5819G>A), located in coding exon 46 of the FBN2 gene, results from a G to A substitution at nucleotide position 5819. The arginine at codon 1940 is replaced by glutamine, an amino acid with highly similar properties, and is located in the cbEGF-like #29 domain. This amino acid position is well conserved in available vertebrate species; however, glutamine is the reference amino acid in other 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. |