ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.26G>A (p.Arg9Gln)

gnomAD frequency: 0.00003  dbSNP: rs772399974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302820 SCV001492044 uncertain significance Immunodeficiency, common variable, 2 2021-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 9 of the TNFRSF13B protein (p.Arg9Gln). This variant is present in population databases (rs772399974, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005872). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002539510 SCV003625506 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.26G>A (p.R9Q) alteration is located in exon 1 (coding exon 1) of the TNFRSF13B gene. This alteration results from a G to A substitution at nucleotide position 26, causing the arginine (R) at amino acid position 9 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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