ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7205-1G>A (rs794728266)

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
GeneDx RCV000181593 SCV000233896 pathogenic not provided 2013-01-09 criteria provided, single submitter clinical testing c.7205-1 G>A: IVS58-1 G>A in intron 58 of the FBN1 gene (NM_000138.4)Although the c.7205-1 G>A mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 58 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the FBN1 gene have been reported in association with Marfan syndrome. In summary, c.7205-1 G>A in the FBN1 gene is interpreted as a disease-causing mutation. The variant is found in TAAD panel(s).
Invitae RCV000228968 SCV000283648 likely pathogenic Marfan syndrome 2016-03-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 58 of the FBN1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in an individual with an FBN1-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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.