ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.164+1del

dbSNP: rs1555407399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000663476 SCV002025538 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS7, PP4
Invitae RCV002530605 SCV003198482 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-22 criteria provided, single submitter clinical testing This variant is also known as c.164+1del. This variant has not been reported in the literature in individuals affected with FBN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly55Aspfs*53) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). ClinVar contains an entry for this variant (Variation ID: 549031). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Center for Medical Genetics Ghent, University of Ghent RCV000663476 SCV000786774 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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