ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1180T>C (p.Leu394=)

gnomAD frequency: 0.20359  dbSNP: rs2036039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126852 SCV000170381 benign not specified 2013-10-24 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 RCV001514764 SCV001722683 benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676504 SCV000802288 benign not provided 2016-02-20 no assertion criteria provided clinical testing

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