ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.548del (p.Pro183fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003042436 SCV003328053 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-10-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the TNFRSF4 gene (p.Pro183Argfs*?). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 94 amino acid(s) of the TNFRSF4 protein and extend the protein by an uncertain number of additional amino acid residues.

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.