Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002313303 | SCV000738973 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-15 | criteria provided, single submitter | clinical testing | The p.R518Q variant (also known as c.1553G>A), located in coding exon 11 of the FBN2 gene, results from a G to A substitution at nucleotide position 1553. The arginine at codon 518 is replaced by glutamine, an amino acid with highly similar properties. Based on data from ExAC, the A allele has an overall frequency less than 0.01% (1/106098). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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 | RCV001227242 | SCV001399592 | likely benign | Congenital contractural arachnodactyly | 2024-01-07 | criteria provided, single submitter | clinical testing |