ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.176G>C (p.Gly59Ala)

gnomAD frequency: 0.00085  dbSNP: rs201279883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650455 SCV000772300 benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2024-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001575037 SCV001801948 likely benign not provided 2020-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22494076)
Mayo Clinic Laboratories, Mayo Clinic RCV001575037 SCV005407885 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing BS1, PP3

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