ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)

dbSNP: rs1555394777
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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 RCV001381229 SCV001579536 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 549366). This sequence change creates a premature translational stop signal (p.Cys2258Tyrfs*2) 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: 25907466). For these reasons, this variant has been classified as Pathogenic.
Centre of Medical Genetics, University of Antwerp RCV000663900 SCV002025416 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663900 SCV000787266 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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