ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.787G>A (p.Gly263Arg)

gnomAD frequency: 0.00001  dbSNP: rs587778378
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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 RCV000707549 SCV000836650 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-03-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398727 SCV004120625 uncertain significance GATA2-related disorder 2023-07-07 criteria provided, single submitter clinical testing The GATA2 c.787G>A variant is predicted to result in the amino acid substitution p.Gly263Arg. To our knowledge, this variant has not been reported in the literature in association with disease. This variant has been reported in a study of cancer-susceptibility genes in a healthy, ancestrally diverse cohort (Table S1, Bodian et al. 2014. PubMed ID: 24728327) and is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-128204654-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV004567046 SCV005058909 uncertain significance Acute myeloid leukemia 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV005338085 SCV006007616 uncertain significance Inborn genetic diseases 2024-12-24 criteria provided, single submitter clinical testing The p.G263R variant (also known as c.787G>A), located in coding exon 2 of the GATA2 gene, results from a G to A substitution at nucleotide position 787. The glycine at codon 263 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well 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.
ITMI RCV000121150 SCV000085318 not provided not specified 2013-09-19 no assertion provided reference population

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