ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.304G>A (p.Glu102Lys)

dbSNP: rs1908036921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930669 SCV002190569 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-12-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1414841). This variant has not been reported in the literature in individuals affected with CD79B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 102 of the CD79B protein (p.Glu102Lys). 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.

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