ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) (rs387906629)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502442 SCV000594916 pathogenic Leukemia, acute myeloid, susceptibility to 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000984831 SCV001132714 pathogenic not provided 2016-10-09 criteria provided, single submitter clinical testing
Invitae RCV001384284 SCV001583727 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2020-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 398 of the GATA2 protein (p.Arg398Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with GATA2 deficiency (PMID: 21670465, 21765025). ClinVar contains an entry for this variant (Variation ID: 29709). This variant has been reported to affect GATA2 protein function (PMID: 29882021). For these reasons, this variant has been classified as Pathogenic.
Molecular Pathology Research Laboratory,SA Pathology RCV001541956 SCV001760591 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3, PS4, PM1, PM2, PM5, PP1_Moderate, PP3
OMIM RCV000022559 SCV000043848 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2011-09-08 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445214 SCV000504646 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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