ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.253A>G (p.Thr85Ala)

gnomAD frequency: 0.00001  dbSNP: rs367654407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881418 SCV002151498 uncertain significance Combined immunodeficiency due to OX40 deficiency 2020-10-28 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TNFRSF4-related conditions. This variant is present in population databases (rs367654407, ExAC 0.07%). This sequence change replaces threonine with alanine at codon 85 of the TNFRSF4 protein (p.Thr85Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.
Ambry Genetics RCV004041386 SCV004087707 uncertain significance not specified 2023-08-04 criteria provided, single submitter clinical testing The c.253A>G (p.T85A) alteration is located in exon 2 (coding exon 2) of the TNFRSF4 gene. This alteration results from a A to G substitution at nucleotide position 253, causing the threonine (T) at amino acid position 85 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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