ClinVar Miner

Submissions for variant NC_000006.11:g.(?_74189435)_(74207639_?)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 RCV004578675 SCV005066177 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-11-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5-11 of the MTO1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant disrupts a region of the MTO1 protein in which other variant(s) (p.Ala428Thr) have been determined to be pathogenic (PMID: 22608499, 23929671, 25058219). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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