ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.470C>T (p.Pro157Leu)

gnomAD frequency: 0.00185  dbSNP: rs150220682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967639 SCV001115036 likely benign Combined immunodeficiency due to OX40 deficiency 2023-12-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711470 SCV005260880 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905934 SCV004719007 likely benign TNFRSF4-related disorder 2019-12-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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