ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer)

dbSNP: rs1576748366
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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 RCV001389075 SCV001590280 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2020-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys281*) in the GATA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA2-related conditions. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). For these reasons, this variant has been classified as Pathogenic.

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