ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.677C>T (p.Pro226Leu)

gnomAD frequency: 0.00001  dbSNP: rs1555844167
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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 RCV001366670 SCV001562981 uncertain significance Agammaglobulinemia 3, autosomal recessive 2020-10-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 226 of the CD79A protein (p.Pro226Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant has not been reported in the literature in individuals with CD79A-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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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