ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3589G>C (p.Asp1197His) (rs397515793)

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 RCV000156031 SCV000205744 likely pathogenic Marfan syndrome 2013-09-24 criteria provided, single submitter clinical testing The Asp1197His variant in FBN1 has been reported in one individual with clinical features of Marfan syndrome, in whom it was reported to have occurred de novo ( Stheneur 2009). A different amino acid change at this position (Asp1197Asn) has been identified by our laboratory in one other individual with clinical features of Marfan syndrome. Furthermore, this variant is located in the last base of th e exon, which is part of the 5? splice region. Computational tools predict this variant may alter splicing, though this information is not predictive enough to determine pathogenicity. In summary, this variant is likely to be pathogenic, th ough additional studies are required to fully establish its clinical significanc e.

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.