ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2678-2A>G

dbSNP: rs1555399101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003767931 SCV004609429 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 22 of the FBN1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of Marfan syndrome (PMID: 33414558; Invitae). ClinVar contains an entry for this variant (Variation ID: 549102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000663569 SCV000786880 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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