Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000547722 | SCV000651520 | uncertain significance | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2024-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 250 of the GATA2 protein (p.Pro250Ser). This variant is present in population databases (rs78245253, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 472465). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GATA2 protein function with a negative predictive value of 95%. 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. |
| Baylor Genetics | RCV003459254 | SCV004198631 | uncertain significance | Acute myeloid leukemia | 2023-08-18 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004592598 | SCV005080318 | uncertain significance | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28637621) |
| Fulgent Genetics, |
RCV005034111 | SCV005659420 | uncertain significance | Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome | 2024-02-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV005338255 | SCV006007578 | uncertain significance | Inborn genetic diseases | 2024-12-19 | criteria provided, single submitter | clinical testing | The p.P250S variant (also known as c.748C>T), located in coding exon 2 of the GATA2 gene, results from a C to T substitution at nucleotide position 748. The proline at codon 250 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |