Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001002264 | SCV001160140 | uncertain significance | not specified | 2018-12-19 | criteria provided, single submitter | clinical testing | The FBN2 c.6881-5T>G variant (rs772186151), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Latino population with an allele frequency of 0.020% (7/35,366 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, given the lack of clinical and functional data, the significance of the c.6881-5T>G variant is uncertain at this time. |
| Invitae | RCV002551693 | SCV003264756 | likely benign | Congenital contractural arachnodactyly | 2023-10-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003380801 | SCV004091753 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.6881-5T>G intronic variant results from a T to G substitution 5 nucleotides upstream from coding exon 55 in the FBN2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |