ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.678del (p.Leu227fs)

dbSNP: rs2100949816
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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 RCV001978674 SCV002211430 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-05-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu227Cysfs*) 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. 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. ClinVar contains an entry for this variant (Variation ID: 1439674). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001978674 SCV004808144 uncertain significance Combined immunodeficiency due to OX40 deficiency 2024-03-29 criteria provided, single submitter clinical testing

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