ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) (rs199469707)

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
Invitae RCV000024179 SCV000832031 pathogenic Joubert syndrome 14 2018-03-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg18*) in the TMEM237 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs199469707, ExAC 0.01%). This variant has been reported in several families affected with Joubert syndrome (PMID: 22152675). This variant is reported to be a founder mutation in the Hutterite population (PMID: 22152675, 22981120). ClinVar contains an entry for this variant (Variation ID: 31180). Loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675). For these reasons, this variant has been classified as Pathogenic.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000024179 SCV000996142 pathogenic Joubert syndrome 14 2018-05-04 criteria provided, single submitter clinical testing This nonsense variant found in exon 2 of 13 is predicted to result in loss of normal protein function. This variant has been previously reported as a homozygous change in ten Canadian Hutterite patients with intellectual disability, a characteristic facial appearance, encephalocele, coloboma, renal disease, and additional features consistent with a diagnosis of a Joubert syndrome related disorder (PMID: 22152675, 17603801). The variant is present in the heterozygous state in the gnomAD population database at a frequency of 0.005% (15/275258) and thus is presumed to be rare. Based on the available evidence, c.52C>T (p.Arg18Ter) variant is classified as pathogenic.
OMIM RCV000024179 SCV000045470 pathogenic Joubert syndrome 14 2012-10-05 no assertion criteria provided literature only
GeneReviews RCV000034999 SCV000058637 pathologic Joubert syndrome 2012-03-29 no assertion criteria provided curation Converted during submission to 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.