Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458357 | SCV000541509 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765712 | SCV000897073 | 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 | |
Genetic Services Laboratory, |
RCV001821227 | SCV002067097 | uncertain significance | not specified | 2020-09-28 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the GATA2 gene demonstrated a sequence change, c.445G>A, in exon 3 that results in an amino acid change, p.Gly149Arg. This sequence change does not appear to have been previously described in patients with GATA2-related disorders and has been described in the gnomAD database with a frequency of 0.053% in the Latino sub-population (dbSNP rs753645971). The p.Gly149Arg change affects a poorly conserved amino acid residue located in a domain of the GATA2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly149Arg substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Gly149Arg change remains unknown at this time. |
Gene |
RCV003236800 | SCV003935778 | uncertain significance | not provided | 2023-07-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in a patient with gastric cancer and in a patient with leukemia (AML); however, it is unclear whether the variant was germline or somatic in the latter individual (Aguirre-Ruiz et al., 2020; Herrera-Pariente et al., 2021); This variant is associated with the following publications: (PMID: 30755392, 33255857, 33525650) |
Prevention |
RCV003972754 | SCV004790409 | likely benign | GATA2-related disorder | 2022-05-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |