ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs)

gnomAD frequency: 0.00001  dbSNP: rs72553878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946976 SCV002242759 pathogenic Immunodeficiency, common variable, 2 2023-08-04 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: 1456816). This premature translational stop signal has been observed in individual(s) with common variable immunodeficiency (PMID: 18981294). This variant is present in population databases (rs774205573, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Cys100Leufs*6) 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).
PreventionGenetics, part of Exact Sciences RCV003941225 SCV004754852 likely pathogenic TNFRSF13B-related disorder 2024-02-29 no assertion criteria provided clinical testing The TNFRSF13B c.298dupT variant is predicted to result in a frameshift and premature protein termination (p.Cys100Leufs*6). This variant was reported in the heterozygous state along with a second variant on the same allele (c.121G>C, p.Asp41His) in one individual with common variable immunodeficiency disorder (CVID) as well as two unaffected family members (Salzer et al. 2009. PubMed ID: 18981294). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in TNFRSF13B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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