ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.599del (p.Gly200fs) (rs768767517)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000984841 SCV001132730 pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing
Invitae RCV001386685 SCV001587019 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2020-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly200Valfs*18) 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 individual(s) with myelodysplastic syndrome (PMID: 27876779). ClinVar contains an entry for this variant (Variation ID: 800690). Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). For these reasons, this variant has been classified as Pathogenic.
Molecular Pathology Research Laboratory,SA Pathology RCV001542188 SCV001760856 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2

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