Submissions for variant NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)

gnomAD frequency: 0.00004  dbSNP: rs72553885

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000813899	SCV000954281	pathogenic	Immunodeficiency, common variable, 2	2024-01-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys193*) in the TNFRSF13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TNFRSF13B are known to be pathogenic (PMID: 16007087, 27123465). This variant is present in population databases (rs72553885, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with TNFRSF13B-related conditions (PMID: 18981294, 27123465, 30993493). ClinVar contains an entry for this variant (Variation ID: 657318). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000996499	SCV001151227	pathogenic	not provided	2023-05-01	criteria provided, single submitter	clinical testing	TNFRSF13B: PVS1, PM2, PS4:Supporting
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000813899	SCV001469225	pathogenic	Immunodeficiency, common variable, 2	2020-06-07	no assertion criteria provided	clinical testing