ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.452C>T (p.Pro151Leu)

gnomAD frequency: 0.00006  dbSNP: rs200037919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658773 SCV000780568 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798749 SCV000938379 uncertain significance Immunodeficiency, common variable, 2 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 151 of the TNFRSF13B protein (p.Pro151Leu). This variant is present in population databases (rs200037919, gnomAD 0.03%). This missense change has been observed in individual(s) with TNFRSF13B-related conditions (PMID: 27123465, 29531467, 33859323, 34441032). ClinVar contains an entry for this variant (Variation ID: 546790). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TNFRSF13B protein function with a negative predictive value of 80%. 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.
GeneDx RCV000658773 SCV005081052 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing Identified in the heterozygous state in individuals with CVID, however, segregation information and clinical information on these individuals was limited (PMID: 27123465, 33859323, 34441032); Identified in trans with a second TNFRSF13 variant in an individual with very early onset inflammatory bowel disease (PMID: 29531467); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27123465, 33859323, 34441032, 29531467)

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