Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Godley laboratory, |
RCV001252666 | SCV001252686 | likely pathogenic | Myelodysplastic syndrome | 2020-05-21 | criteria provided, single submitter | clinical testing | This heterozygous deletion of exon 4 of GATA2 was identified in germline in a 22-year old female with MDS-U and leukocytoclastic vasculitis. The exact breakpoints and thus the impact on the reading frame are unknown but it does lead to deletion of exon 4 which encodes zinc finger 2, a critical functional domain. The variant segregates with disease in her brother who was diagnosed with MDS in his 20s. The following ACMC/AMP criteria were used: PVS1_strong, PM2. |