ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.307+1G>A

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 RCV003501681 SCV004293861 likely pathogenic Parathyroid carcinoma 2023-12-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the CDC73 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with CDC73-related conditions (PMID: 23029104, 24716902, 32590342). This variant is also known as IVS3+1 G>A. Studies have shown that disruption of this splice site results in skipping of exon 3 and introduces a premature termination codon (PMID: 24716902). The resulting mRNA is expected to undergo nonsense-mediated decay. 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.

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.