ClinVar Miner

Submissions for variant NC_000022.10:g.(?_24108194)_(24110061_?)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 RCV004579163 SCV005067913 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 2023-07-12 criteria provided, single submitter clinical testing 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. A similar copy number variant has been observed in individual(s) with clinical features of CHCHD10-related conditions (Invitae). A gross deletion of the genomic region encompassing the full coding sequence of the CHCHD10 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHCHD10 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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