ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.61+2T>C

dbSNP: rs760885614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002029 SCV002214190 pathogenic Immunodeficiency, common variable, 2 2023-03-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the TNFRSF13B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TNFRSF13B are known to be pathogenic (PMID: 16007087, 27123465). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Studies have shown that disruption of this splice site alters TNFRSF13B gene expression (PMID: 19629655). ClinVar contains an entry for this variant (Variation ID: 1436172). Disruption of this splice site has been observed in individual(s) with common variable immunodeficiency (PMID: 19629655). This variant is not present in population databases (gnomAD no frequency).

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