ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.227G>A (p.Gly76Asp)

dbSNP: rs772701872
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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 RCV000794862 SCV000934295 uncertain significance Immunodeficiency, common variable, 2 2018-12-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs772701872, ExAC 0.02%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TNFRSF13B-related conditions. This sequence change replaces glycine with aspartic acid at codon 76 of the TNFRSF13B protein (p.Gly76Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.
Ambry Genetics RCV002536987 SCV003598023 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.227G>A (p.G76D) alteration is located in exon 3 (coding exon 3) of the TNFRSF13B gene. This alteration results from a G to A substitution at nucleotide position 227, causing the glycine (G) at amino acid position 76 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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