Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040634 | SCV001204219 | uncertain significance | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2023-08-11 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GATA2 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 838976). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 402 of the GATA2 protein (p.Asn402Ser). This variant is present in population databases (rs375927513, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV003141957 | SCV003807151 | uncertain significance | Monocytopenia with susceptibility to infections | 2022-12-22 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderated, BP4 supporting |