ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)

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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 RCV002651070 SCV003515733 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg484 amino acid residue in MTO1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29331171, 31451716, 31842146). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MTO1 protein function. This missense change has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 29331171). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 484 of the MTO1 protein (p.Arg484Gln).

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