ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2598_2601dup (p.Gly868fs)

dbSNP: rs1555399159
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 RCV000389578 SCV000330816 pathogenic not provided 2016-09-21 criteria provided, single submitter clinical testing Although the c.2598_2601dupCAAT pathogenic variant in the FBN1 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Glycine 868, changing it to a Glutamine, and creating a premature stop codon at position 27 of the new reading frame, denoted p.Gly868GlnfsX27. 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 HGMD in association with FBN1-related disorders, including Marfan syndrome (Stenson et al., 2014). Furthermore, c.2598_2601dupCAAT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.2598_2601dupCAAT in the FBN1 gene is interpreted as a pathogenic variant.

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.