ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)

gnomAD frequency: 0.00001  dbSNP: rs193922704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.

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