Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554862 | SCV000627087 | uncertain significance | Acute myeloid leukemia | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 102 of the CEBPA protein (p.Gly102Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456677). 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. 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. |
Sema4, |
RCV002257787 | SCV002531732 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-09 | criteria provided, single submitter | curation | |
Gene |
RCV003329293 | SCV004036909 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with acute myeloid leukemia (Szankasi et al., 2011); This variant is associated with the following publications: (PMID: 20970189) |
Baylor Genetics | RCV000554862 | SCV004212553 | uncertain significance | Acute myeloid leukemia | 2023-09-13 | criteria provided, single submitter | clinical testing |