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
Invitae RCV001381229 SCV001579536 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 549366). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 25907466). 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).
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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