ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.122A>G (p.Asp41Gly)

gnomAD frequency: 0.00003  dbSNP: rs763197017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361513 SCV001557489 uncertain significance Immunodeficiency, common variable, 2 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 41 of the TNFRSF13B protein (p.Asp41Gly). This variant is present in population databases (rs763197017, gnomAD 0.06%). This missense change has been observed in individual(s) with TNFRSF13B-related conditions (PMID: 27123465, 32135276). ClinVar contains an entry for this variant (Variation ID: 1053198). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001361513 SCV003806936 uncertain significance Immunodeficiency, common variable, 2 2023-01-27 criteria provided, single submitter clinical testing ACMG classification criteria: PM3 supporting, PP3 supporting
GeneDx RCV004770099 SCV005379110 uncertain significance not provided 2024-04-21 criteria provided, single submitter clinical testing Apparently de novo variant in a patient with a clinical suspicion of primary immunodeficiency in the published literature, but additional clinical information was not included (PMID: 32135276); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27123465, 19494827, 32135276)

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