ClinVar Miner

Submissions for variant NM_020338.4(ZMIZ1):c.253C>T (p.Arg85Ter)

dbSNP: rs1039220588
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880084 SCV002186156 pathogenic not provided 2021-09-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 984582). This variant has not been reported in the literature in individuals affected with ZMIZ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg85*) in the ZMIZ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZMIZ1 are known to be pathogenic (PMID: 30639322). For these reasons, this variant has been classified as Pathogenic.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264674 SCV001442873 uncertain significance Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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.