Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247140 | SCV000308597 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000800520 | SCV000940241 | benign | Congenital contractural arachnodactyly | 2023-06-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446486 | SCV002734533 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-21 | criteria provided, single submitter | clinical testing | The p.R788H variant (also known as c.2363G>A), located in coding exon 18 of the FBN2 gene, results from a G to A substitution at nucleotide position 2363. The arginine at codon 788 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a hereditary aortopathy cohort (Renner S et al. Genet Med, 2019 08;21:1832-1841). This amino acid position is well 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. |
Gene |
RCV003318568 | SCV004022659 | uncertain significance | not provided | 2023-01-26 | criteria provided, single submitter | clinical testing | Identified in a patient with thoracic aortic aneurysm and dissection (TAAD) who also harbored a likely pathogenic variant in the LOX gene (Renner et al., 2019); 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); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30675029) |