ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4838+2T>G

dbSNP: rs2040714903
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001293770 SCV001482421 likely pathogenic Clark-Baraitser syndrome 2021-01-22 criteria provided, single submitter clinical testing The variant c.4757+2T>G affects the donor splice site of intron 32 and is therefore highly likely to impact the splicing process by causing the retention of the following intron and the formation of an aberrant mRNA, which is unlikely to be exported and translated into protein. This variant has not been reported in dbSNP, gnomAD, 1000 Genomes Project or ClinVar. Pathogenic splicing mutations in the TRIP12 gene have been previously reported (ClinVar). Almost all pathogenic variants thus far reported are de novo (OMIM # 617752).

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.