ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)

dbSNP: rs2109029867
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001387946 SCV001588714 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1074596). This premature translational stop signal has been observed in individual(s) with Meckel syndrome (PMID: 19777577). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp513*) 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).
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796624 SCV005415940 pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3+PP4
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001814315 SCV002060980 pathogenic Meckel-Gruber syndrome no assertion criteria provided case-control
PreventionGenetics, part of Exact Sciences RCV004733283 SCV005360106 pathogenic CC2D2A-related disorder 2024-08-12 no assertion criteria provided clinical testing The CC2D2A c.1538G>A variant is predicted to result in premature protein termination (p.Trp513*). This variant has previously been reported in the compound heterozygous state in one fetus with Meckel-Gruber syndrome (Mougou-Zerelli et al. 2009. PubMed ID: 19777577) and in an individual with a neurodevelopmental disorder (Wang et al. 2022. PubMed ID: 35266334). Nonsense variants in CC2D2A are expected to be pathogenic. This variant is interpreted 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.