ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)

dbSNP: rs1555394582
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Total submissions: 2
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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, Molecular Genetics and Genomics, 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.

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