ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7599del (p.Leu2534fs)

dbSNP: rs794728320
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
GeneDx RCV000181676 SCV000233979 pathogenic not provided 2014-08-18 criteria provided, single submitter clinical testing Although the c.7599delT mutation in the FBN1 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Leucine 2534, changing it to a Cysteine, and creating a premature stop codon at position 148 of the new reading frame, denoted p.Leu2534CysfsX148. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the FBN1 gene have been reported in association with Marfan syndrome. In summary, c.7599delT in the FBN1 gene is interpreted as a disease-causing mutation.

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.