Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001203272 | SCV001374428 | uncertain significance | Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 2019-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with proline at codon 286 of the GATA2 protein (p.Ala286Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA2-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, |
RCV001267764 | SCV001424080 | uncertain significance | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 2020-05-21 | no assertion criteria provided | clinical testing |