ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.659GCCTGG[3] (p.Leu223_Val224insGlyLeu)

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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 RCV002974852 SCV003281702 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. 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 is present in population databases (rs756916915, gnomAD 0.008%). This variant, c.665_670dup, results in the insertion of 2 amino acid(s) of the TNFRSF4 protein (p.Gly222_Leu223dup), but otherwise preserves the integrity of the reading frame.

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