Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Zeviani Lab, |
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 |