ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.491C>A (p.Ala164Glu)

dbSNP: rs2100950839
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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 RCV002022406 SCV002296743 uncertain significance Combined immunodeficiency due to OX40 deficiency 2021-01-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 164 of the TNFRSF4 protein (p.Ala164Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. 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 C15"). This variant has not been reported in the literature in individuals with TNFRSF4-related conditions. This variant is not present in population databases (ExAC no frequency).

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