ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val)

dbSNP: rs1060500084
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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 RCV000466926 SCV000541499 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-09-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 404071). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 100 of the GATA2 protein (p.Gly100Val). This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Genetic Services Laboratory, University of Chicago RCV000500768 SCV000594921 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392266 SCV004110472 uncertain significance GATA2-related disorder 2023-01-10 criteria provided, single submitter clinical testing The GATA2 c.299_300delinsTT variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GenomeConnect - Invitae Patient Insights Network RCV000466926 SCV004228725 not provided Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-07-2020 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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