ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.755A>G (p.Tyr252Cys)

gnomAD frequency: 0.00002  dbSNP: rs1060500090
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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 RCV000471971 SCV000541511 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-08-10 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 252 of the GATA2 protein (p.Tyr252Cys). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. 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: 404082).
Baylor Genetics RCV004567942 SCV005058902 uncertain significance Acute myeloid leukemia 2024-01-05 criteria provided, single submitter clinical testing

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