ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1243G>A (p.Glu415Lys)

gnomAD frequency: 0.00002  dbSNP: rs1345163538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649497 SCV000771326 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-08-11 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 539715). This missense change has been observed in individual(s) with clinical features of GATA2-related conditions (PMID: 26702063, 32888943, 34469508). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 415 of the GATA2 protein (p.Glu415Lys).
Molecular Pathology Research Laboratory, SA Pathology RCV001541959 SCV001760594 uncertain significance Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation No criteria satisfied

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