ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.235C>T (p.Arg79Ter)

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
DASA RCV002221980 SCV002499421 likely pathogenic Pelger-Huët anomaly 2022-04-10 criteria provided, single submitter clinical testing The c.235C>T;p.(Arg79*) variant creates a premature translational stop signal in the LBR gene. It is expected to result in an absent or disrupted protein product -PVS1. This variant is not present in population databases (rs1363715209- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br) - PM2. In summary, the currently available evidence indicates that the variant is 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.