ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1205A>G (p.Asn402Ser)

dbSNP: rs375927513
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 RCV001040634 SCV001204219 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-08-11 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GATA2 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 838976). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 402 of the GATA2 protein (p.Asn402Ser). This variant is present in population databases (rs375927513, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GATA2-related conditions.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003141957 SCV003807151 uncertain significance Monocytopenia with susceptibility to infections 2022-12-22 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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.