ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4459+3A>T

dbSNP: rs397515809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035202 SCV000058844 uncertain significance not specified 2008-06-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798074 SCV002041986 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513352 SCV003442922 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-14 criteria provided, single submitter clinical testing This sequence change falls in intron 36 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 42362). This variant has been observed in individual(s) with FBN1-related conditions (PMID: 24793577).

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