ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.164+2T>C (rs727503058)

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 RCV000150706 SCV000198114 likely pathogenic Marfan syndrome 2013-05-23 criteria provided, single submitter clinical testing The 164+2T>C variant in FBN1 has not been previously reported in individuals wit h Marfan syndrome or in large population studies. However, another variant (164+ 1G>A) affecting the same donor splice site has been identified in a patient with an incomplete form of Marfan syndrome (Comeglio 2007). This variant occurs in t he invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance.

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.