ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.548C>G (p.Pro183Arg)

gnomAD frequency: 0.00001  dbSNP: rs191704944
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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 RCV000809370 SCV000949520 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-04-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs191704944, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 183 of the TNFRSF4 protein (p.Pro183Arg). ClinVar contains an entry for this variant (Variation ID: 653577). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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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