ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)

dbSNP: rs121908379
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Total submissions: 4
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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).
CeGaT Center for Human Genetics Tuebingen RCV002274877 SCV002563388 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing TNFRSF13B: PVS1, PM2
Institute of Human Genetics, University of Leipzig Medical Center 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

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