ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) (rs377177061)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114178 SCV000147730 likely pathogenic Meckel-Gruber syndrome 2019-12-18 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000596321 SCV000707120 pathogenic not provided 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV001056175 SCV001220600 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2019-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg132*) in the CC2D2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs377177061, ExAC 0.08%). This variant has not been reported in the literature in individuals with CC2D2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 126242). Loss-of-function variants in CC2D2A are known to be pathogenic (PMID: 19777577). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074483 SCV001240069 likely pathogenic Retinal dystrophy 2017-09-15 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.