ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.35C>T (p.Pro12Leu)

dbSNP: rs771462465
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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 RCV001054037 SCV001218330 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 849970). This variant is present in population databases (rs771462465, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 12 of the TNFRSF4 protein (p.Pro12Leu).

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