ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.206C>T (p.Pro69Leu)

gnomAD frequency: 0.00011  dbSNP: rs199733493
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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 RCV001207182 SCV001378524 uncertain significance Combined immunodeficiency due to OX40 deficiency 2023-09-03 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TNFRSF4 protein function. ClinVar contains an entry for this variant (Variation ID: 938036). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs199733493, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 69 of the TNFRSF4 protein (p.Pro69Leu).
Breakthrough Genomics, Breakthrough Genomics RCV004691387 SCV005186592 uncertain significance not provided criteria provided, single submitter not provided

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