Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001906451 | SCV002177009 | uncertain significance | Hyper-IgM syndrome type 2 | 2023-05-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.003%). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1402468). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 153 of the AICDA protein (p.Glu153Gln). |
| Ambry Genetics | RCV003375424 | SCV004083860 | uncertain significance | Inborn genetic diseases | 2023-07-06 | criteria provided, single submitter | clinical testing | The c.457G>C (p.E153Q) alteration is located in exon 4 (coding exon 4) of the AICDA gene. This alteration results from a G to C substitution at nucleotide position 457, causing the glutamic acid (E) at amino acid position 153 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004587243 | SCV005077332 | uncertain significance | not specified | 2024-04-08 | criteria provided, single submitter | clinical testing |