ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3209-2A>C

dbSNP: rs2043526284
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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 RCV001046550 SCV001210455 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-06-10 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in an individual affected with Marfan syndrome (PMID: 17657824). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 26 of the FBN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796355 SCV005416596 likely pathogenic Marfan syndrome criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PP4

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