ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.205A>G (p.Ser69Gly)

dbSNP: rs2144758191
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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 RCV002002730 SCV002248323 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-06-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 69 of the CD79B protein (p.Ser69Gly). This variant has not been reported in the literature in individuals affected with CD79B-related conditions. 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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