ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter)

gnomAD frequency: 0.00001  dbSNP: rs1263540507
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
3billion RCV002052065 SCV002318479 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported to be associated with VPS33B related disroder (PMID:22753090). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000052). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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.