ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.485C>G (p.Ser162Trp)

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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 RCV002572139 SCV002929797 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 162 of the TNFRSF4 protein (p.Ser162Trp). This variant is present in population databases (rs372412045, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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