ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6953G>A (p.Cys2318Tyr) (rs1555394626)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521679 SCV000617601 pathogenic not provided 2017-09-21 criteria provided, single submitter clinical testing The C2318Y pathogenic variant in the FBN1 gene has been reported in association with classic Marfan syndrome (Stheneur et al., 2009). This variant results in a non-conservative amino acid substitution at a position that is conserved across species. The C2318Y variant affects a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene, which may affect disulfide bonding and is predicted to alter the structure and function of the protein. Cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with Marfan syndrome (Collod-Beroud et al., 2003). Additionally, a missense variant at the same residue (C2318R) has been reported in association with Marfan syndrome (Baetens et al., 2011). Finally, the C2318Y variant is not observed in large population cohorts (Lek et al., 2016).
Center for Medical Genetics Ghent,University of Ghent RCV000663918 SCV000787286 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.