ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.258C>A (p.Asp86Glu)

gnomAD frequency: 0.00001  dbSNP: rs587778166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685379 SCV000812857 uncertain significance Agammaglobulinemia 3, autosomal recessive 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 86 of the CD79A protein (p.Asp86Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs587778166, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with CD79A-related conditions. ClinVar contains an entry for this variant (Variation ID: 133832). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid 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.
ITMI RCV000120484 SCV000084637 not provided not specified 2013-09-19 no assertion provided reference population

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