ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1022_1027dup (p.Ala342_Arg343insThrAla)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005220471 SCV005861460 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-07-19 criteria provided, single submitter clinical testing This variant, c.1022_1027dup, results in the insertion of 2 amino acid(s) of the GATA2 protein (p.Ala342_Arg343insThrAla), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs755912864, gnomAD 0.0009%). 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.

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