ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) (rs757208121)

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
Invitae RCV000456449 SCV000553242 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2016-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 423 (p.Arg423*) of the CC2D2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CC2D2A are known to be pathogenic. This particular variant has been reported in a family with a nephronophthisis-related ciliopathy (PMID: 26673778). 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.