ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3589+3A>G

dbSNP: rs2043513649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262621 SCV001440558 uncertain significance Marfan syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799058 SCV002041972 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770366 SCV004597244 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-06-17 criteria provided, single submitter clinical testing 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 982896). This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 29 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.

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