ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.452C>T (p.Pro151Leu) (rs200037919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658773 SCV000780568 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000798749 SCV000938379 uncertain significance Common variable immunodeficiency 2 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 151 of the TNFRSF13B protein (p.Pro151Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs200037919, ExAC 0.02%). This variant has been observed in an individual affected with selective IgA deficiency (PMID: 27123465). ClinVar contains an entry for this variant (Variation ID: 546790). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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