ClinVar Miner

Submissions for variant NC_000012.11:g.(?_123741340)_(123741578_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003113680 SCV003796424 pathogenic Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the C12orf65 protein in which other variant(s) (p.Arg132*) have been determined to be pathogenic (PMID: 23188110, 28091420, 30369941, 31753091). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the C12orf65 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.