ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.2070_2073del (p.Arg690fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002880458 SCV003225810 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-08-20 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MTO1 gene (p.Arg690Serfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the MTO1 protein and extend the protein by 7 additional amino acid residues. This variant is present in population databases (rs765037509, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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