ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.969G>A (p.Leu323=)

gnomAD frequency: 0.00002  dbSNP: rs752977187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110480 SCV002435123 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903482 SCV004733413 likely benign MTO1-related disorder 2019-12-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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