Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029304 | SCV000051950 | likely pathogenic | Hyper-IgM syndrome type 2 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Invitae | RCV000029304 | SCV004280485 | uncertain significance | Hyper-IgM syndrome type 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 125 of the AICDA protein (p.Gly125Glu). This variant is present in population databases (rs193922704, gnomAD 0.003%). This missense change has been observed in individual(s) with hyper-IgM syndrome or common variable immunodeficiency (PMID: 20652909). ClinVar contains an entry for this variant (Variation ID: 35656). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |