ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1837+1G>T (rs397515762)

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 RCV000035126 SCV000058766 likely pathogenic Marfan syndrome 2013-01-29 criteria provided, single submitter clinical testing The 1837+1G>T variant in FBN1 has not been previously identified by our laborato ry, but has been reported in a single individual with an unclassified fibrillino pathy (Stheneur 2009). Additionally, another variant (1837+1G>A) affecting the same splice site has been identified in a patient with clinical features of Marf an syndrome (Loeys 2004). This variant is located in the 5' splice donor region. Computational tools do suggest an impact to splicing; however, this information is not predictive enough to determine/rule out pathogenicity. In summary, this variant is likely pathogenic, though additional studies are required to fully e stablish 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.