ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg) (rs72553874)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989758 SCV001140309 uncertain significance Common variable immunodeficiency 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989758 SCV001221233 uncertain significance Common variable immunodeficiency 2 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 40 of the TNFRSF13B protein (p.Trp40Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs72553874, ExAC 0.03%). This variant has been observed in individual(s) with antibody deficiency (PMID: 18981294). This variant has been reported not to substantially affect TNFRSF13B protein function (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.

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