ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.938+14G>A

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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 RCV003646128 SCV004393951 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-06-20 criteria provided, single submitter clinical testing 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 may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the MTO1 gene. It does not directly change the encoded amino acid sequence of the MTO1 protein.

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