ClinVar Miner

Submissions for variant NM_018668.4(VPS33B):c.1726T>C (p.Cys576Arg) (rs1596348299)

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
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University RCV000855548 SCV000998791 pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1 2018-10-25 no assertion criteria provided in vitro The missense VPS33B variant c.1726T>C, p. Cys576Arg has been founded in three Chinese patients presenting isolated low gamma-glutamyltransferase cholestasis without other two major characteristics of typical arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome. Besides, in-vitro study revealed that the Cys576Arg variant reduced the protein expression and disrupted the interaction between VIPAS39.

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.