ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)

dbSNP: rs972221242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000785906 SCV000924482 likely pathogenic Joubert syndrome 14 2018-06-15 criteria provided, single submitter research The homozygous p.Gln140Ter variant was identified by our study in one individual with Joubert syndrome. This variant has been identified in <0.01% (1/33566) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Loss of function of the TMEM237 gene is an established disease mechanism in autosomal recessive Joubert syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
Hadassah Hebrew University Medical Center RCV000785906 SCV001142763 likely pathogenic Joubert syndrome 14 2019-06-20 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.