ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.250G>A (p.Glu84Lys)

gnomAD frequency: 0.00015  dbSNP: rs373082402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687195 SCV000814748 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 84 of the CD79B protein (p.Glu84Lys). This variant is present in population databases (rs373082402, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CD79B-related conditions. ClinVar contains an entry for this variant (Variation ID: 567186). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine 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.
Fulgent Genetics, Fulgent Genetics RCV000687195 SCV002784764 uncertain significance Agammaglobulinemia 6, autosomal recessive 2021-10-14 criteria provided, single submitter clinical testing

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