ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)

dbSNP: rs1560180188
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785072 SCV000923627 pathogenic not provided 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001869170 SCV002240783 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp854*) 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 has not been reported in the literature in individuals affected with CC2D2A-related conditions. 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 634560).
Fulgent Genetics, Fulgent Genetics RCV005029441 SCV005662425 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-06-19 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.