ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.325T>G (p.Cys109Gly)

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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 RCV002968084 SCV003288639 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-03-17 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TNFRSF4 protein function. ClinVar contains an entry for this variant (Variation ID: 2076008). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs780756664, gnomAD 0.009%). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 109 of the TNFRSF4 protein (p.Cys109Gly).
Ambry Genetics RCV004065103 SCV004967919 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The c.325T>G (p.C109G) alteration is located in exon 3 (coding exon 3) of the TNFRSF4 gene. This alteration results from a T to G substitution at nucleotide position 325, causing the cysteine (C) at amino acid position 109 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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