ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.721C>T (p.Arg241Trp)

gnomAD frequency: 0.00001  dbSNP: rs1006323015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701380 SCV000830180 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-05-07 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TNFRSF4 protein function. ClinVar contains an entry for this variant (Variation ID: 578388). 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 replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 241 of the TNFRSF4 protein (p.Arg241Trp).

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