ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.371-3C>T

dbSNP: rs2100953066
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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 RCV002040395 SCV002305610 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-07-06 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1508362). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This sequence change falls in intron 3 of the TNFRSF4 gene. It does not directly change the encoded amino acid sequence of the TNFRSF4 protein. It affects a nucleotide within the consensus splice site.

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