Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000984841 | SCV001132730 | pathogenic | not provided | 2016-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386685 | SCV001587019 | pathogenic | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2023-02-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 800690). This premature translational stop signal has been observed in individual(s) with myelodysplastic syndrome (PMID: 27876779). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly200Valfs*18) in the GATA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). |
Molecular Pathology Research Laboratory, |
RCV001542188 | SCV001760856 | pathogenic | Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML | 2021-07-06 | criteria provided, single submitter | curation | PVS1, PS4, PM2 |