ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.774C>G (p.His258Gln)

dbSNP: rs1353328065
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820293 SCV002064705 uncertain significance not specified 2019-07-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256845 SCV002529439 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003772308 SCV004603636 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-09-26 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 258 of the GATA2 protein (p.His258Gln). This variant is present in population databases (no rsID available, gnomAD no frequency). 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: 1337279). 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. 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.
Ambry Genetics RCV005341062 SCV006007613 uncertain significance Inborn genetic diseases 2024-12-11 criteria provided, single submitter clinical testing The p.H258Q variant (also known as c.774C>G), located in coding exon 2 of the GATA2 gene, results from a C to G substitution at nucleotide position 774. The histidine at codon 258 is replaced by glutamine, an amino acid with highly 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.

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