ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4748-9T>C

gnomAD frequency: 0.00001  dbSNP: rs760640909
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632055 SCV000753158 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003823 SCV004832432 uncertain significance Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing This variant causes a T to C nucleotide substitution at the -9 position of intron 38 of the FBN1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 4/281338 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain 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.