ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter)

gnomAD frequency: 0.00007  dbSNP: rs200583827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 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.

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