ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.571del (p.Asp191fs)

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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 RCV003615013 SCV004473226 uncertain significance Immunodeficiency, common variable, 2 2023-05-08 criteria provided, single submitter clinical testing 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. This sequence change creates a premature translational stop signal (p.Asp191Ilefs*30) 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 (rs748653062, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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