ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1018-2A>G

dbSNP: rs1576745322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory, SA Pathology RCV001542150 SCV001760818 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Moderate, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002570650 SCV003525357 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-05-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the GATA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of GATA2-related conditions (PMID: 26022708, 26702063). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 26022708). ClinVar contains an entry for this variant (Variation ID: 1184181).

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