ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.961A>G (p.Lys321Glu)

gnomAD frequency: 0.00008  dbSNP: rs148667065
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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 RCV001399185 SCV001600970 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000864068 SCV001802585 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002538934 SCV003611589 likely benign Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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