ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.869+1del

dbSNP: rs1311551510
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 Medicine Lab, University of California San Francisco RCV001375992 SCV001572994 pathogenic Joubert syndrome 14 2020-06-18 criteria provided, single submitter clinical testing
Invitae RCV001375992 SCV002242477 pathogenic Joubert syndrome 14 2021-04-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TMEM237-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile291fs*8) in the TMEM237 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Lab, University of California San Francisco RCV001375992 SCV002576370 pathogenic Joubert syndrome 14 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.