ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.346C>T (p.Arg116Trp)

gnomAD frequency: 0.00001  dbSNP: rs770260720
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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 RCV001896185 SCV002160164 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-08-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs770260720, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 116 of the MTO1 protein (p.Arg116Trp). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. 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: 1392366).

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