ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu)

gnomAD frequency: 0.00001  dbSNP: rs863225232
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
UW Hindbrain Malformation Research Program, University of Washington RCV000201590 SCV000256509 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research
Preventiongenetics, part of Exact Sciences RCV003401089 SCV004112423 likely pathogenic TMEM67-related condition 2023-02-14 criteria provided, single submitter clinical testing The TMEM67 c.1073C>T variant is predicted to result in the amino acid substitution p.Pro358Leu. This variant has been reported in the compound heterozygous state in three individuals from the same pedigree with COACH syndrome (Doherty et al. 2010. PubMed ID: 19574260; Table S5 in Bachmann-Gagescu et al. 2015. PubMed ID: 26092869). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Given the evidence, we interpret c.1073C>T (p.Pro358Leu) as likely pathogenic.
OMIM RCV000201590 SCV000045084 pathogenic Joubert syndrome 6 2011-07-01 no assertion criteria provided literature only

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.