ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)

dbSNP: rs1559985135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704865 SCV000833836 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-06-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 581129). This missense change has been observed in individual(s) with clinical features of GATA2 deficiency (PMID: 30578959). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 346 of the GATA2 protein (p.Gly346Ser). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Molecular Pathology Research Laboratory, SA Pathology RCV001541976 SCV001760611 uncertain significance Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM2, PP3
Genetic Services Laboratory, University of Chicago RCV001816732 SCV002068894 uncertain significance not specified 2018-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV005338332 SCV006007581 uncertain significance Inborn genetic diseases 2025-02-27 criteria provided, single submitter clinical testing The p.G346S variant (also known as c.1036G>A), located in coding exon 4 of the GATA2 gene, results from a G to A substitution at nucleotide position 1036. The glycine at codon 346 is replaced by serine, an amino acid with similar properties. This variant was reported in a 20-year-old proband with GATA2 deficiency-related bone marrow and immunodeficiency disorder (McReynolds LJ et al. Leuk Res, 2019 Jan;76:70-75). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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