ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6119G>A (p.Cys2040Tyr) (rs397515830)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035239 SCV000058884 likely pathogenic Marfan syndrome 2010-11-15 criteria provided, single submitter clinical testing The 6119G>A (Cys2040Tyr) variant has not been previously reported in the literat ure or been identified by our laboratory. This variant affects a cysteine residu e; cysteine substitutions are a common finding in individuals with Marfan syndro me (Schrijver 1999). Cysteine at amino acid position 2040 is highly conserved ac ross evolutionarily distinct species. In addition, computational analyses (PolyP hen, SIFT, AlignGVGD) suggest that the Cys2040Tyr variant may impact the normal function of the protein, although it should be noted that the sensitivity and sp ecificity of these analyses has not been determined. This variant is likely to b e pathogenic.

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.