ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1017+572C>T (rs1559985787)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686407 SCV000813925 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2020-10-06 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the GATA2 gene. It does not directly change the encoded amino acid sequence of the GATA2 protein. This variant has been observed to segregate with myelodysplastic syndrome in two families (PMID: 26492932, 23502222) and has been reported in several individuals affected with clinical features of GATA2 deficiency (PMID: 23365458, 26492932, 26702063, 23502222, 27013649, 29724903, 29156497, Invitae). ClinVar contains an entry for this variant (Variation ID: 566562). This variant has been reported to affect GATA2 protein function (PMID: 30620726). Experimental studies have shown that this change results in partial reduction of GATA2 intron 5 enhancer activity which is required for NK cell differentiation (PMID: 23502222, 23365458). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics,PreventionGenetics RCV000984814 SCV001132695 pathogenic not provided 2016-11-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000984814 SCV001714708 pathogenic not provided 2020-03-26 criteria provided, single submitter clinical testing PS3, PS4, PM1, PP1_Moderate
Molecular Pathology Research Laboratory,SA Pathology RCV001542146 SCV001760814 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3, PS4, PM1, PM2, PP1_Strong

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