ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6740-2del

dbSNP: rs1555394783
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170303 SCV001332872 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2017-11-08 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000663895 SCV002025412 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS7, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001861733 SCV002238218 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-12-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Marfan syndrome (PMID: 19293843). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 549363). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 55 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).
Center for Medical Genetics Ghent, University of Ghent RCV000663895 SCV000787261 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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