Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004581310 | SCV005065404 | pathogenic | Immunodeficiency, common variable, 2 | 2023-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the TNFRSF13B gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. This variant disrupts a region of the TNFRSF13B protein in which other variant(s) (p.Ile87Asn) have been determined to be pathogenic (PMID: 21419480, 21458042, 22627058, 22697072, 22884984, 27123465, 30290665, 31681265). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. |