ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.136G>A (p.Asp46Asn)

gnomAD frequency: 0.00001  dbSNP: rs370750401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233976 SCV000291134 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-09-08 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. ClinVar contains an entry for this variant (Variation ID: 241718). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 46 of the GATA2 protein (p.Asp46Asn). This variant is present in population databases (rs370750401, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GATA2-related conditions.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262682 SCV001440633 uncertain significance Monocytopenia with susceptibility to infections 2019-01-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256172 SCV002529419 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-01 criteria provided, single submitter curation

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