Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000005630 | SCV001231511 | pathogenic | Immunodeficiency, common variable, 2 | 2022-09-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 5306). This premature translational stop signal has been observed in individual(s) with common variable immunodeficiency (PMID: 16007087, 23237420). This variant is present in population databases (rs121908379, gnomAD 0.1%). This sequence change creates a premature translational stop signal (p.Ser194*) 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). |
Ce |
RCV002274877 | SCV002563388 | pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | TNFRSF13B: PVS1, PM2 |
Institute of Human Genetics, |
RCV000005630 | SCV002765089 | pathogenic | Immunodeficiency, common variable, 2 | 2022-11-02 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP |
OMIM | RCV000005630 | SCV000025812 | pathogenic | Immunodeficiency, common variable, 2 | 2005-08-01 | no assertion criteria provided | literature only |