ClinVar Miner

Submissions for variant NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly)

dbSNP: rs2144755949
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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 RCV001904633 SCV002121046 uncertain significance Agammaglobulinemia 6, autosomal recessive 2021-06-08 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: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with CD79B-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces alanine with glycine at codon 188 of the CD79B protein (p.Ala188Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine.

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