ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.515dup (p.Ala173fs)

dbSNP: rs769217131
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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 RCV001984629 SCV002214020 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-09-29 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. ClinVar contains an entry for this variant (Variation ID: 1434401). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs769217131, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ala173Serfs*21) in the TNFRSF4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNFRSF4 cause disease.

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