ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5225-3C>G

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
Department of Laboratory Medicine and Genetics, Samsung Medical Center RCV005051212 SCV005684932 likely pathogenic Marfan syndrome 2025-01-02 no assertion criteria provided clinical testing The NM_000138.5:c.5225-3C>G is considered to be rare in the general population database (gnomAD v2.1.1). This variant is predicted to be deleterious by in-silico analysis (SpliceAI). This variant was found in a patient with Marfan syndrome meeting revised Ghent criteria (PMID: 36421783). According to the ClinGen guidance for PP1/BS4 and PP4 criteria (PMID: 38103548), PP4 with weighted strength was applied. In summary, this variant was classified as a likely pathogenic variant for Marfan syndrome (PP3, PP4 with weighted strength, PM2_P).

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.