ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1417C>T (p.Arg473Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002288113 SCV002578671 likely pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29331171, 33258288)
Labcorp Genetics (formerly Invitae), Labcorp RCV003097751 SCV003279971 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 473 of the MTO1 protein (p.Arg473Cys). 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) performed at Invitae indicates that this missense variant is expected to disrupt MTO1 protein function. ClinVar contains an entry for this variant (Variation ID: 1708829). This missense change has been observed in individual(s) with clinical features of MTO1 deficiency (PMID: 29331171, 33258288). This variant is not present in population databases (gnomAD no frequency).

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