Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865296 | SCV001006236 | likely benign | Congenital contractural arachnodactyly | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169116 | SCV003913585 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-25 | criteria provided, single submitter | clinical testing | The p.F2554V variant (also known as c.7660T>G), located in coding exon 60 of the FBN2 gene, results from a T to G substitution at nucleotide position 7660. The phenylalanine at codon 2554 is replaced by valine, an amino acid with highly similar properties. 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. |