ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1273G>A (p.Gly425Arg)

gnomAD frequency: 0.00001  dbSNP: rs779264207
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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 RCV002048282 SCV002305522 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-01-30 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MTO1 protein function. ClinVar contains an entry for this variant (Variation ID: 1514518). This missense change has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 29331171). This variant is present in population databases (rs779264207, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 425 of the MTO1 protein (p.Gly425Arg).

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