ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.29G>T (p.Arg10Leu)

dbSNP: rs774474644
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 RCV001989804 SCV002233408 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-06-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 10 of the TNFRSF4 protein (p.Arg10Leu). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1449784). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs774474644, gnomAD 0.02%).

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.