ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.619dup (p.Thr207fs)

dbSNP: rs1555401689
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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 RCV000663854 SCV002025333 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV005223100 SCV005863566 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr207Asnfs*16) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 21542060). ClinVar contains an entry for this variant (Variation ID: 549334). For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000663854 SCV000787212 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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