ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)

dbSNP: rs1555397718
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000663688 SCV000898694 pathogenic Marfan syndrome 2023-01-17 criteria provided, single submitter clinical testing This variant has been reported in the literature in 2 individuals with Marfan syndrome (Baetens 2011 PMID: 21542060; Meester 2022 PMD: 35058154). This variant is absent from gnomAD, but is present in ClinVar (Variation ID: 549204). This variant alters a cysteine residue in a calcium-binding EGF-like domain; cysteines in cbEGF-like domains of the fibrillin-1 protein are established as critical for protein structure and function (Robinson 2006 PMID: 16571647; Faivre 2007 PMID: 17701892). Evolutionary conservation and computational prediction tools strongly support that this variant impacts the encoded protein. In summary, this variant is classified as pathogenic.
Centre of Medical Genetics, University of Antwerp RCV000663688 SCV002025295 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS2, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663688 SCV000787019 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.