ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1160_1168del (p.Thr387_Lys389del)

dbSNP: rs1553770444
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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 RCV000545396 SCV000651488 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2017-06-23 criteria provided, single submitter clinical testing This variant, c.1160_1168delCCATGAAGA, results in the deletion of 3 amino acids of the GATA2 protein (p.Thr387_Lys389del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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. This variant has not been reported in the literature in individuals with GATA2-related disease. This variant is not present in population databases (ExAC no frequency).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989559 SCV004807038 uncertain significance Monocytopenia with susceptibility to infections 2024-03-26 criteria provided, single submitter clinical testing

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