ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.796G>A (p.Glu266Lys)

dbSNP: rs2100948983
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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 RCV001974381 SCV002264342 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-11-01 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 not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 266 of the TNFRSF4 protein (p.Glu266Lys). ClinVar contains an entry for this variant (Variation ID: 1478848). 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. 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: "Probably Damaging"; Align-GVGD: "Class C0").

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