Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000523593 | SCV000618809 | uncertain significance | not provided | 2017-07-14 | criteria provided, single submitter | clinical testing | The R124C variant in the CD79A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R124C variant is observed in 17/61026 (0.03%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The R124C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R124C as a variant of uncertain significance. |
| Labcorp Genetics |
RCV000817060 | SCV000957598 | uncertain significance | Agammaglobulinemia 3, autosomal recessive | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 124 of the CD79A protein (p.Arg124Cys). This variant is present in population databases (rs144006380, gnomAD 0.02%). This missense change has been observed in individual(s) with rheumatic disease and hypogammaglobulinaemia (PMID: 33046446). ClinVar contains an entry for this variant (Variation ID: 450253). 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 disruptive. 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. |