ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)

gnomAD frequency: 0.00009  dbSNP: rs141800945
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502247 SCV000594919 uncertain significance not specified 2016-05-18 criteria provided, single submitter clinical testing
Invitae RCV000540993 SCV000651522 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 277 of the GATA2 protein (p.Ser277Gly). This variant is present in population databases (rs141800945, gnomAD 0.02%). 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: 435283). 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.
Fulgent Genetics, Fulgent Genetics RCV000765711 SCV000897072 uncertain significance Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome 2022-02-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200274 SCV001371187 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257773 SCV002529440 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter curation
GeneDx RCV001200274 SCV002756506 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003470628 SCV004198609 uncertain significance Acute myeloid leukemia 2023-10-30 criteria provided, single submitter clinical testing

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