ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.572dup (p.Asp191fs)

gnomAD frequency: 0.00002  dbSNP: rs769165409
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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 RCV000707119 SCV000836202 uncertain significance Immunodeficiency, common variable, 2 2024-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp191Glufs*46) in the TNFRSF13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the TNFRSF13B protein. This variant is present in population databases (rs769165409, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with antibody deficiency (PMID: 18981294). ClinVar contains an entry for this variant (Variation ID: 582925). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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