ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) (rs863225163)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201655 SCV000256318 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
GeneDx RCV000362856 SCV000330578 pathogenic not provided 2016-05-31 criteria provided, single submitter clinical testing The R785X pathogenic variant in the C5orf42 gene has been reported previously in an individual with Jourbert syndrome who harbored another pathogenic variant in the C5orf42 gene; the phase of these two variants in the reported individual was not confirmed (Bachmann-Gagescu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R785X variant was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R785X as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000362856 SCV000861439 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing

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.