ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)

dbSNP: rs373477245
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237472 SCV001410233 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-07-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 200 of the GATA2 protein (p.Gly200Ala). This variant is present in population databases (rs373477245, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 963444). 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 with a negative predictive value of 95%. 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.
Baylor Genetics RCV003462804 SCV004198652 uncertain significance Acute myeloid leukemia 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036519 SCV005659422 uncertain significance Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome 2024-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV005340710 SCV006007557 uncertain significance Inborn genetic diseases 2025-01-07 criteria provided, single submitter clinical testing The p.G200A variant (also known as c.599G>C), located in coding exon 2 of the GATA2 gene, results from a G to C substitution at nucleotide position 599. The glycine at codon 200 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898232 SCV004710003 uncertain significance GATA2-related disorder 2023-12-28 no assertion criteria provided clinical testing The GATA2 c.599G>C variant is predicted to result in the amino acid substitution p.Gly200Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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