ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.509del (p.Asp170fs)

gnomAD frequency: 0.00003  dbSNP: rs774777119
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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 RCV001314038 SCV001504552 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TNFRSF4 gene (p.Asp170Alafs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acids of the TNFRSF4 protein and extend the protein by an uncertain number of additional amino acids. This variant is present in population databases (rs774777119, gnomAD 0.008%). 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: 1015210). 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.

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