ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1017+1G>A (rs200407856)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597652 SCV000700659 pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000198057 SCV000253860 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-12-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in CC2D2A are known to be pathogenic (PMID: 19777577, 22241855). ClinVar also contains an entry for this variant (RCV000152936). This individual has phenotype consistent with CC2D2A-related conditions, and is compound heterozygous for c.1017+1G>A and c.3145C>T (p.Arg1049*) mutations. The two mutations were confirmed to be in trans through family testing. For these reasons, this variant has been classified as Pathogenic.
UW Hindbrain Malformation Research Program,University of Washington RCV000201663 SCV000256347 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research

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.