Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234722 | SCV000291137 | uncertain significance | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2023-11-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 61 of the GATA2 protein (p.Ala61Val). 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 missense change has been observed in individual(s) with acute myeloid leukemia (PMID: 21892162). ClinVar contains an entry for this variant (Variation ID: 241721). 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 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. |
Fulgent Genetics, |
RCV000765713 | SCV000897074 | uncertain significance | Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000984835 | SCV001132719 | uncertain significance | not provided | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000984835 | SCV001714710 | uncertain significance | not provided | 2021-02-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003463686 | SCV004198628 | uncertain significance | Acute myeloid leukemia | 2023-08-31 | criteria provided, single submitter | clinical testing |