ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.805G>A (p.Asp269Asn)

gnomAD frequency: 0.00001  dbSNP: rs769107435
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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 RCV001232398 SCV001404955 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 269 of the TNFRSF4 protein (p.Asp269Asn). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 959109). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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