ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1995A>G (p.Gln665=)

gnomAD frequency: 0.00002  dbSNP: rs146878659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430213 SCV000530994 likely benign not specified 2016-08-31 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 RCV002063425 SCV002479392 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-01-24 criteria provided, single submitter clinical testing

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