ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.62-1G>A

gnomAD frequency: 0.00002  dbSNP: rs759649059
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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 RCV001057949 SCV001222478 pathogenic Immunodeficiency, common variable, 2 2023-04-03 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 853184). Disruption of this splice site has been observed in individual(s) with common variable immunodeficiency (CVID) (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs759649059, gnomAD 0.007%). This sequence change affects an acceptor 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).

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