ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2113+3A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV005001943 SCV005627239 uncertain significance Marfan syndrome 2025-01-16 criteria provided, single submitter clinical testing ClinGen VCEP: PM2_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV005223158 SCV005862274 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-15 criteria provided, single submitter clinical testing This sequence change falls in intron 17 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). This variant has been observed in individuals with clinical features of Marfan syndrome (PMID: 17657824; internal data). 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. 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.

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