Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002313341 | SCV000739035 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-09-23 | criteria provided, single submitter | clinical testing | The p.R2362T variant (also known as c.7085G>C), located in coding exon 56 of the FBN2 gene, results from a G to C substitution at nucleotide position 7085. The arginine at codon 2362 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV001053182 | SCV001217429 | likely benign | Congenital contractural arachnodactyly | 2023-11-17 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001572264 | SCV001796872 | uncertain significance | not provided | 2020-07-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on 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); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 519860; Landrum et al., 2016) |