ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.25C>T (p.Arg9Cys)

dbSNP: rs1436974541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360087 SCV001555985 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2020-08-14 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. 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 expected to disrupt GATA2 protein function. This variant has not been reported in the literature in individuals with GATA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 9 of the GATA2 protein (p.Arg9Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.
GenomeConnect - Invitae Patient Insights Network RCV001360087 SCV004228740 not provided Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-14-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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