Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502247 | SCV000594919 | uncertain significance | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000540993 | SCV000651522 | uncertain significance | Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 2019-11-23 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with glycine at codon 277 of the GATA2 protein (p.Ser277Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs141800945, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with GATA2-related disease. ClinVar contains an entry for this variant (Variation ID: 435283). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV000765711 | SCV000897072 | uncertain significance | Acute myeloid leukemia; Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Myelodysplastic syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001200274 | SCV001371187 | uncertain significance | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing |