Submissions for variant NM_012123.4(MTO1):c.1051A>G (p.Met351Val)

gnomAD frequency: 0.00261  dbSNP: rs144075994

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232932	SCV000289863	likely benign	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000423219	SCV000516638	benign	not specified	2015-09-14	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.
Ambry Genetics	RCV002518349	SCV003542363	benign	Inborn genetic diseases	2022-06-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.