ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.331CAC[2] (p.His113del)

dbSNP: rs777017660
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 RCV001064124 SCV001229003 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-08-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 858280). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is present in population databases (rs777017660, gnomAD 0.02%). This variant, c.337_339del, results in the deletion of 1 amino acid(s) of the GATA2 protein (p.His113del), but otherwise preserves the integrity of the reading frame.
Genetic Services Laboratory, University of Chicago RCV001819790 SCV002069215 uncertain significance not specified 2018-07-26 criteria provided, single submitter clinical testing

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.