Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000198778 | SCV000250317 | uncertain significance | not provided | 2014-10-03 | criteria provided, single submitter | clinical testing | p.Asp2893Val (GAC>GTC): c.8678 A>T in exon 65 of the FBN2 gene (NM_001999.3) The D2893V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D2893V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D2893V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is only moderately conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. No missense mutations in nearby residues have been reported in association with contractural arachnodactyly, suggesting this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAAD |
| Invitae | RCV000796322 | SCV000935830 | likely benign | Congenital contractural arachnodactyly | 2024-01-25 | criteria provided, single submitter | clinical testing |