ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6380-2A>C

dbSNP: rs886041482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000315289 SCV000330142 pathogenic not provided 2016-01-07 criteria provided, single submitter clinical testing Although the c.6380-2 A>C variant in the FBN1 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge, it destroys the canonical splice acceptor site in intron 52 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Multiple other downstream splice site variants in the FBN1 gene have been reported in HGMD in association with Marfan syndrome (Stenson et al., 2014). Furthermore, the c.6380-2 A>C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.6380-2 A>C in the FBN1 gene is interpreted as a pathogenic variant.
Centre of Medical Genetics, University of Antwerp RCV002245989 SCV002025387 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS7, PP1, PP4

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