ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.669G>A (p.Met223Ile)

gnomAD frequency: 0.00002  dbSNP: rs140382420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470368 SCV000541508 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001785615 SCV002028194 uncertain significance not provided 2021-05-19 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 a germline pathogenic or benign variant to our knowledge; This variant is associated with the following publications: (PMID: 30190467)
PreventionGenetics, part of Exact Sciences RCV003418151 SCV004118557 uncertain significance GATA2-related disorder 2023-08-28 criteria provided, single submitter clinical testing The GATA2 c.669G>A variant is predicted to result in the amino acid substitution p.Met223Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-128204772-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV004567940 SCV005058904 uncertain significance Acute myeloid leukemia 2023-12-27 criteria provided, single submitter clinical testing

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