ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) (rs143027621)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506368 SCV000605393 pathogenic not specified 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV000648134 SCV000769948 uncertain significance Common variable immunodeficiency 2 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 171 of the TNFRSF13B protein (p.Leu171Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs143027621, ExAC 0.03%). This variant has been reported as homozygous, compound heterozygous, and heterozygous in individuals and families affected with common variable immunodeficiency (PMID: 17983875, 17392798, 19779048, 22697072, 23237420). It has also been observed as heterozygous in asymptomatic individuals from these same families (PMID: 23237420, 22697072). ClinVar contains an entry for this variant (Variation ID: 440340). Experimental studies have shown that this missense change impairs the expression and function of the TACI protein (PMID: 21419480). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762232 SCV000892514 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000762232 SCV000928296 uncertain significance not provided 2019-03-22 criteria provided, single submitter clinical testing

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