ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) (rs1553770434)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529588 SCV000651490 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2017-06-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 396 of the GATA2 protein (p.Arg396Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with GATA2 deficiency (PMID: 23223431, 22430350, 22533337, 25624456, 21670465, 24077845). In a single family, it was reported to segregate with disease in four of the family members (PMID: 23223431). This variant has also been reported to be de novo in an affected individual (PMID: 22430350). An experimental study has shown that this missense change disrupts the DNA-binding activity of GATA2 at its own promoter, thereby impairing its transcription (PMID: 25624456). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics,PreventionGenetics RCV000984830 SCV001132713 pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001541953 SCV001760588 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS2, PS3, PS4, PM1, PM2, PM5, PP1_Moderate, PP3

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.