ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.422G>A (p.Arg141Gln)

gnomAD frequency: 0.00003  dbSNP: rs777737578
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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 RCV000695201 SCV000823686 uncertain significance Agammaglobulinemia 6, autosomal recessive 2022-10-24 criteria provided, single submitter clinical testing 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 573508). This variant has not been reported in the literature in individuals affected with CD79B-related conditions. This variant is present in population databases (rs777737578, gnomAD 0.07%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 141 of the CD79B protein (p.Arg141Gln).

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