ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.308A>G (p.Gln103Arg)

gnomAD frequency: 0.00004  dbSNP: rs769195529
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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 RCV001893505 SCV002167960 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 103 of the TNFRSF4 protein (p.Gln103Arg). This variant is present in population databases (rs769195529, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398239). 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 with a negative predictive value of 80%. 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.

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