ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) (rs869320770)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704724 SCV000833684 likely pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-06-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GATA2 gene (p.Ala342Glyfs*43). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 139 amino acids of the GATA2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with NK-cell deficiency (PMID: 23365458). This variant is also known as c.1025_1026insGCCG in the literature. ClinVar contains an entry for this variant (Variation ID: 225277). Variants that disrupt the p.Arg396 amino acid residue in GATA2 have been observed in affected individuals (PMID: 21670465, 22430350, 22533337, 23223431, 24077845, 25624456). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000210903 SCV000267199 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 1989-06-29 no assertion criteria provided literature only

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.