ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.239C>T (p.Pro80Leu)

gnomAD frequency: 0.00001  dbSNP: rs757655414
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 RCV001299889 SCV001489005 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-07-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 1003348). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 80 of the TNFRSF4 protein (p.Pro80Leu).
Ambry Genetics RCV004036155 SCV004967917 uncertain significance not specified 2024-02-13 criteria provided, single submitter clinical testing The c.239C>T (p.P80L) alteration is located in exon 2 (coding exon 2) of the TNFRSF4 gene. This alteration results from a C to T substitution at nucleotide position 239, causing the proline (P) at amino acid position 80 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.