Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000932063 | SCV001077741 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-07-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001857 | SCV001159570 | uncertain significance | not specified | 2018-07-10 | criteria provided, single submitter | clinical testing | The FBN1 c.7014C>T; p.Tyr2338Tyr variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is a synonymous variant, but occurs in a nucleotide that is highly conserved in vertebrates. Computational analyses (Alamut v.2.11) predict that this variant does not significantly enhance splicing of two nearby cryptic splice acceptor sites, but functional studies are needed to establish whether either site could compete with the nearest canonical splice acceptor. Given the lack of clinical and functional data, the significance of the c.7014C>T; p.Tyr2338Tyr variant is uncertain at this time. |