ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)

dbSNP: rs1555394567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530226 SCV000627981 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2017-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2371 (p.Trp2371*) of 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. This particular variant has been reported in the literature in an individual with Marfan syndrome (PMID: 21542060). For these reasons, this variant has been classified as Pathogenic.
Centre of Medical Genetics, University of Antwerp RCV000663930 SCV002025432 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663930 SCV000787301 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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