ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs)

dbSNP: rs886044547
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
Eurofins Ntd Llc (ga) RCV000291116 SCV000345357 pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365327 SCV002664847 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2018-09-21 criteria provided, single submitter clinical testing The c.6682dupT pathogenic mutation, located in coding exon 54 of the FBN1 gene, results from a duplication of T at nucleotide position 6682, causing a translational frameshift with a predicted alternate stop codon (p.Y2228Lfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration 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.