ClinVar Miner

Submissions for variant NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)

dbSNP: rs35135520
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
Zeviani Lab, University of Cambridge RCV000677434 SCV000788332 pathogenic Mitochondrial encephalopathy criteria provided, single submitter case-control The variants are reported in an Italian infant patient with rapidly progressive, severe encephalopathy. In vitro functional analysis on skin fibroblasts showed low levels of TIMM50 and other components of the TIM23 complex, lower mitochondrial membrane potential and impaired TIM23-dependent protein import. As a consequence, steady-state levels of several components of mitochondrial respiratory chain were decreased, resulting in decreased respiration and increased ROS production.
OMIM RCV001328000 SCV001519331 pathogenic 3-methylglutaconic aciduria type 9 2021-03-16 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.