Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002996155 | SCV003300634 | uncertain significance | Specific granule deficiency | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 171 of the CEBPE protein (p.Ala171Asp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CEBPE-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004068464 | SCV004921500 | uncertain significance | Inborn genetic diseases | 2024-03-04 | criteria provided, single submitter | clinical testing | The c.512C>A (p.A171D) alteration is located in exon 2 (coding exon 2) of the CEBPE gene. This alteration results from a C to A substitution at nucleotide position 512, causing the alanine (A) at amino acid position 171 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Mayo Clinic Laboratories, |
RCV004790307 | SCV005409672 | uncertain significance | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | BP4, PM2 |