Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000541368 | SCV000622157 | pathogenic | Decreased activity of mitochondrial ATP synthase complex | 2017-06-01 | no assertion criteria provided | clinical testing | Pathogenicity of this variant was established through patient-specific functional assays including untargeted serum metabolomics, western blot, Blue Native PAGE, Seahorse energetics, and electron microscopy of iPSC-derived cardiomyocytes which were all consistent with impaired ATPase function. Additional evidence for gene- and variant-specific pathogenicity included in vivo transgenic Drosophila studies with attempted rescue. This individual has been reported in PMID:29478781 (subject 1). |
OMIM | RCV000680226 | SCV000807680 | pathogenic | Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | 2018-09-14 | no assertion criteria provided | literature only |