ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.2077T>C (p.Ter693Gln)

gnomAD frequency: 0.00001  dbSNP: rs770798772
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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 RCV001878078 SCV002157904 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-05-27 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the MTO1 mRNA. It is expected to extend the length of the MTO1 protein by 12 additional amino acid residues. This variant is present in population databases (rs770798772, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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