ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs) (rs769165409)

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
Invitae RCV000707119 SCV000836202 pathogenic Common variable immunodeficiency 2 2018-03-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TNFRSF13B gene (p.Asp191Glufs*46). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acids of the TNFRSF13B protein. This variant is present in population databases (rs769165409, ExAC 0.03%). This variant has been reported in combination with a second TNFRSF13B variant in an individual affected with antibody deficiency (PMID: 18981294). A different truncation (p.S194*) that lies downstream of this variant has been determined to be pathogenic (PMID: 23237420). This suggests that deletion of this region of the TNFRSF13B protein is causative of disease. For these reasons, this variant has been classified as 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.