ClinVar Miner

Submissions for variant NC_000006.11:g.(?_74171578)_(74192363_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963304 SCV002241579 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-9 of the MTO1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTO1 are known to be pathogenic (PMID: 22608499, 25058219). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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