Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310828 | SCV000317360 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-13 | criteria provided, single submitter | clinical testing | The p.G1520V variant (also known as c.4559G>T), located in coding exon 35 of the FBN2 gene, results from a G to T substitution at nucleotide position 4559. The glycine at codon 1520 is replaced by valine, an amino acid with dissimilar 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. |
Center for Genomics, |
RCV002058492 | SCV002495776 | uncertain significance | Congenital contractural arachnodactyly; Macular degeneration, early-onset | 2021-08-11 | criteria provided, single submitter | clinical testing | FBN2 NM_001999.4 exon 35 p.Gly1520Val (c.4559G>T):This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:263332). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |