ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.6C>G (p.Cys2Trp)

dbSNP: rs202161001
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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 RCV001962229 SCV002135146 uncertain significance Combined immunodeficiency due to OX40 deficiency 2021-06-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 2 of the TNFRSF4 protein (p.Cys2Trp). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant has not been reported in the literature in individuals with TNFRSF4-related conditions. 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: "Not Available"; Align-GVGD: "Class C0").
Ambry Genetics RCV004681274 SCV005178700 uncertain significance not specified 2024-05-02 criteria provided, single submitter clinical testing The c.6C>G (p.C2W) alteration is located in exon 1 (coding exon 1) of the TNFRSF4 gene. This alteration results from a C to G substitution at nucleotide position 6, causing the cysteine (C) at amino acid position 2 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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