Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001306418 | SCV001495790 | uncertain significance | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2021-11-26 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1008996). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is present in population databases (rs758517602, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 423 of the GATA2 protein (p.Glu423Lys). |
Baylor Genetics | RCV003469531 | SCV004198650 | uncertain significance | Acute myeloid leukemia | 2023-06-02 | criteria provided, single submitter | clinical testing |