ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1894C>T (p.Leu632=)

gnomAD frequency: 0.00506  dbSNP: rs117757245
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126855 SCV000170384 benign not specified 2014-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086692 SCV000289868 benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676505 SCV001961976 benign not provided 2025-02-01 criteria provided, single submitter clinical testing MTO1: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV001086692 SCV002812493 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-10-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676505 SCV000802289 benign not provided 2016-03-02 no assertion criteria provided clinical testing

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