ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg)

gnomAD frequency: 0.00001  dbSNP: rs370164300
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473249 SCV000541517 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 450 of the GATA2 protein (p.Gly450Arg). This variant is present in population databases (rs370164300, gnomAD 0.03%). 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: 404088). 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 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.
Fulgent Genetics, Fulgent Genetics RCV000765708 SCV000897069 uncertain significance Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001764367 SCV002000770 uncertain significance not provided 2020-04-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003470393 SCV004198622 uncertain significance Acute myeloid leukemia 2023-09-13 criteria provided, single submitter clinical testing

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