ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.128T>A (p.Met43Lys)

dbSNP: rs782421590
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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 RCV001339065 SCV001532780 uncertain significance Agammaglobulinemia 3, autosomal recessive 2020-07-16 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 43 of the CD79A protein (p.Met43Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is present in population databases (rs782421590, ExAC 0.002%). This variant has not been reported in the literature in individuals with CD79A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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