Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313289 | SCV000738951 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-01-07 | criteria provided, single submitter | clinical testing | The p.R1307C variant (also known as c.3919C>T), located in coding exon 30 of the FBN2 gene, results from a C to T substitution at nucleotide position 3919. The arginine at codon 1307 is replaced by cysteine, an amino acid with highly dissimilar properties. 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 well 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 variant remains unclear. |
Invitae | RCV001345957 | SCV001540111 | likely benign | Congenital contractural arachnodactyly | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770551 | SCV001993507 | uncertain significance | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); 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: 19006240, 18767143) |