ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.243C>T (p.Cys81=)

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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 RCV003583781 SCV004313881 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-07-28 criteria provided, single submitter clinical testing This sequence change affects codon 81 of the TNFRSF4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TNFRSF4 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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