ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1391G>A (p.Arg464His)

gnomAD frequency: 0.00002  dbSNP: rs141970072
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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 RCV001036527 SCV001199895 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 464 of the MTO1 protein (p.Arg464His). This variant is present in population databases (rs141970072, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 835604). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg464 amino acid residue in MTO1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26061759, 27256614, 29331171). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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