ClinVar Miner

Submissions for variant NC_000012.11:g.(?_123738222)_(123738523_?)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 RCV004578456 SCV005067164 pathogenic Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-12-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the C12orf65 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 C12orf65 are known to be pathogenic (PMID: 20598281, 24424123). A similar copy number variant has been observed in individual(s) with clinical features of C12orf65 associated conditions (PMID: 31694722). For these reasons, this variant has been classified as Pathogenic.

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