ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.290C>G (p.Pro97Arg)

gnomAD frequency: 0.00001  dbSNP: rs754139414
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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 RCV000648140 SCV000769954 uncertain significance Immunodeficiency, common variable, 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 97 of the TNFRSF13B protein (p.Pro97Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs754139414, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
CeGaT Center for Human Genetics Tuebingen RCV000996500 SCV001151228 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000996500 SCV001767397 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge

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