ClinVar Miner

Submissions for variant NC_000001.10:g.(?_193099294)_(193111206_?)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 RCV002049172 SCV002310069 likely pathogenic Parathyroid carcinoma 2020-12-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the bipartite nuclear localization signal (NLS) at codons 125-139 of the CDC73 protein, which is important for proper localization and function of the CDC73 protein (PMID: 17314275). While functional studies have not been performed to directly test the effect of this variant on CDC73 protein function, this suggests that disruption of this region of the protein is causative of disease. This variant has not been reported in the literature in individuals with CDC73-related conditions. A smaller in-frame deletion (exons 3-5) has been observed in individuals with clinical features of CDC73-related conditions (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 3-7 of the CDC73 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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.