ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.1411C>T (p.Arg471Ter) (rs745532481)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598035 SCV000704174 likely pathogenic not provided 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000598035 SCV000748364 pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing The R471X variant in the COL9A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R471X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R471X 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.