ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.715del (p.Met239fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003798579 SCV004581949 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met239Trpfs*19) in 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 (PMID: 19777577). This variant is present in population databases (rs754985710, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796846 SCV005416019 pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4
Fulgent Genetics, Fulgent Genetics RCV004796846 SCV005660504 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-01-24 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.