ClinVar Miner

Submissions for variant NC_000006.11:g.(?_74201937)_(74210458_?)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 RCV003116553 SCV003792760 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-06-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10-12 of the MTO1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with MTO1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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