ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.253G>A (p.Gly85Arg)

gnomAD frequency: 0.00004  dbSNP: rs1054967842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318007 SCV001508694 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 85 of the MTO1 protein (p.Gly85Arg). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individual(s) with combined oxidative phosphorylation deficiency (PMID: 30369941). ClinVar contains an entry for this variant (Variation ID: 1018673). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004793418 SCV005407886 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing PP3, PM2_moderate, PS4_moderate

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