Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000784952 | SCV000923496 | uncertain significance | Congenital contractural arachnodactyly | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000784953 | SCV000923497 | uncertain significance | Macular degeneration, early-onset | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000784952 | SCV001405952 | likely benign | Congenital contractural arachnodactyly | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001552287 | SCV001772951 | uncertain significance | not provided | 2020-04-22 | 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 (Collod-Beroud et al., 2003; Frederic et al., 2009).; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 634470; Landrum et al., 2016) |
Ambry Genetics | RCV002442606 | SCV002679921 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-21 | criteria provided, single submitter | clinical testing | The p.G2866S variant (also known as c.8596G>A), located in coding exon 65 of the FBN2 gene, results from a G to A substitution at nucleotide position 8596. The glycine at codon 2866 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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. |