ClinVar Miner

Submissions for variant NC_000022.11:g.(?_23767364)_(23767982_?)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 RCV000809996 SCV000950182 uncertain significance Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 2018-11-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the CHCHD10 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the CHCHD10 gene. This is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with a CHCHD10-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHCHD10 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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