ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) (rs387906632)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812052 SCV000952354 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg337*) 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 been observed in individuals affected with GATA2 deficiency (PMID: 23502222, 27894982, 21892158). ClinVar contains an entry for this variant (Variation ID: 29719). Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics,PreventionGenetics RCV000984812 SCV001132693 pathogenic not provided 2017-09-13 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory,SA Pathology RCV001542112 SCV001760780 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2
OMIM RCV000022571 SCV000043860 pathogenic Lymphedema, primary, with myelodysplasia 2011-09-04 no assertion criteria provided literature only

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