ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1549G>A (p.Val517Met)

gnomAD frequency: 0.00155  dbSNP: rs139608228
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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 RCV001082913 SCV000289866 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000828081 SCV000969760 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29458409)
CeGaT Center for Human Genetics Tuebingen RCV000828081 SCV002497428 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing MTO1: BP4, BS2

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