Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466168 | SCV000553183 | likely benign | Congenital contractural arachnodactyly | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002056715 | SCV002496232 | uncertain significance | not provided | 2023-07-13 | 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; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); This variant is associated with the following publications: (PMID: 19006240, 18767143) |
Ambry Genetics | RCV002329074 | SCV002627765 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-28 | criteria provided, single submitter | clinical testing | The p.D1443V variant (also known as c.4328A>T), located in coding exon 33 of the FBN2 gene, results from an A to T substitution at nucleotide position 4328. The aspartic acid at codon 1443 is replaced by valine, an amino acid with highly 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323550 | SCV004029369 | likely benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing |