ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) (rs755097302)

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
GeneDx RCV000438829 SCV000535549 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The R424X variant in the C5orf42 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 R424X variant was not observed in approximately 2300 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 R424X as a pathogenic variant.
Invitae RCV000694430 SCV000822876 pathogenic Orofaciodigital syndrome 6; Joubert syndrome 17 2017-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg424*) in the C5orf42 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs755097302, ExAC 0.03%). This variant has not been reported in the literature in individuals with C5orf42-related disease. ClinVar contains an entry for this variant (Variation ID: 392297). Loss-of-function variants in C5orf42 are known to be pathogenic (PMID: 22425360). For these reasons, this variant has been classified as Pathogenic.

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.