ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2050_2054dup (p.Ala686fs)

dbSNP: rs1555399762
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 RCV000479958 SCV000572918 pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing Although the c.2050_2054dupTGTTG pathogenic variant in the FBN1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon alanine 686, changing it to a valine, and creating a premature stop codon at position 34 of the new reading frame, denoted p.Ala686ValfsX34. This pathogenic variant 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 variants in the FBN1 gene have been reported in Human Gene Mutation Database in association with FBN1-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.2050_2054dupTGTTG variant has not been observed in large population cohorts (Lek et al., 2016; Exome Variant Server).

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.