Submissions for variant NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr)

gnomAD frequency: 0.00090  dbSNP: rs150407012

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000694602	SCV000823053	likely benign	Combined immunodeficiency due to OX40 deficiency	2025-01-30	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000694602	SCV002495995	uncertain significance	Combined immunodeficiency due to OX40 deficiency	2021-08-16	criteria provided, single submitter	clinical testing	TNFRSF4 NM_003327.3 exon 5 p.Ile165Thr (c.494T>C): This variant has not been reported in the literature but is present in 0.2% (24/15282) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-1212082-A-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID: 573043). Evolutionary conservation suggests that this variant does not impact the protein; computational predictive tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV003411616	SCV004126897	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	TNFRSF4: BP4