ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) (rs886039092)

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
Ambry Genetics RCV000245168 SCV000320020 likely pathogenic Cardiovascular phenotype 2017-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000489245 SCV000576715 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing The C2302S variant in the FBN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The C2302S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C2302S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue (C2302Y) has been reported in an individual with features of either Marfan syndrome or a Marfan-related disorder (Comeglio et al., 2007), supporting the functional importance of this region of the protein. We interpret C2302S as a pathogenic variant.

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.