Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514491 | SCV000609867 | likely pathogenic | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001216068 | SCV001387842 | pathogenic | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg442*) in the MTO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTO1 are known to be pathogenic (PMID: 22608499, 25058219). This variant is present in population databases (rs200583827, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 445467). For these reasons, this variant has been classified as Pathogenic. |