ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.216C>T (p.Ile72=)

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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 RCV002594058 SCV002958545 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-06-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant is present in population databases (rs143046967, gnomAD 0.01%). This sequence change affects codon 72 of the MTO1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MTO1 protein. It affects a nucleotide within the consensus splice site.

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