ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1648_1650dup (p.Val550dup)

dbSNP: rs2150042260
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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 RCV002038497 SCV002312653 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-08-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1520042). 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. This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant, c.1648_1650dup, results in the insertion of 1 amino acid(s) of the MTO1 protein (p.Val550dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency).

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