ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1018-1G>T

dbSNP: rs869320668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory, SA Pathology RCV001542153 SCV001760821 likely pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1_Strong, PS4_Supporting, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003764625 SCV004569784 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-10-19 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 individuals with GATA2-related conditions (PMID: 21670465, 21765025, 26022708). ClinVar contains an entry for this variant (Variation ID: 29716). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022568 SCV000043857 pathogenic Monocytopenia with susceptibility to infections 2011-09-08 no assertion criteria provided literature only

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