ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.698T>C (p.Ile233Thr)

dbSNP: rs1649125548
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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 RCV001235752 SCV001408456 uncertain significance Combined immunodeficiency due to OX40 deficiency 2019-09-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 233 of the TNFRSF4 protein (p.Ile233Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TNFRSF4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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