Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198286 | SCV000250171 | uncertain significance | not provided | 2023-06-20 | 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 does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; 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) |
Ambry Genetics | RCV003243015 | SCV000318739 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-04-03 | criteria provided, single submitter | clinical testing | The p.S884T variant (also known as c.2651G>C), located in coding exon 20 of the FBN2 gene, results from a G to C substitution at nucleotide position 2651. The serine at codon 884 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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 alteration remains unclear. |
Invitae | RCV001316692 | SCV001507323 | likely benign | Congenital contractural arachnodactyly | 2023-07-26 | criteria provided, single submitter | clinical testing |