ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1274del (p.Gly425fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003487264 SCV004241936 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-12-07 criteria provided, single submitter clinical testing Variant summary: MTO1 c.1274delG (p.Gly425GlufsX23) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251484 control chromosomes. To our knowledge, no occurrence of c.1274delG in individuals affected with Combined Oxidative Phosphorylation Deficiency 10 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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