ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3209-3C>A

gnomAD frequency: 0.00001  dbSNP: rs397515787
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Total submissions: 4
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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 RCV000035164 SCV000058806 uncertain significance not specified 2017-04-24 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Color Diagnostics, LLC DBA Color Health RCV001192098 SCV001360071 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-10 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -3 position of intron 26 of the FBN1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has been reported in an individual suspected of having Marfan syndrome (PMID: 24793577). This variant has been identified in 2/251442 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852708 SCV002251760 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-18 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 may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 42328). This variant has been observed in individual(s) with clinical features of FBN1-related conditions (PMID: 24793577). This variant is present in population databases (rs397515787, gnomAD 0.004%). This sequence change falls in intron 26 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.
All of Us Research Program, National Institutes of Health RCV003996186 SCV004816648 uncertain significance Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -3 position of intron 26 of the FBN1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has been reported in an individual suspected of having Marfan syndrome (PMID: 24793577). This variant has been identified in 2/251442 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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