Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200771 | SCV000250275 | uncertain significance | not provided | 2020-06-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frederic et al., 2009). |
Invitae | RCV001296985 | SCV001485964 | likely benign | Congenital contractural arachnodactyly | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165447 | SCV003913147 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-01-13 | criteria provided, single submitter | clinical testing | The p.R703H variant (also known as c.2108G>A), located in coding exon 16 of the FBN2 gene, results from a G to A substitution at nucleotide position 2108. The arginine at codon 703 is replaced by histidine, 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. |