ClinVar Miner

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

dbSNP: 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, part of Exact Sciences RCV000984841 SCV001132730 pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing
Invitae RCV001386685 SCV001587019 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-02-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 800690). This premature translational stop signal has been observed in individual(s) with myelodysplastic syndrome (PMID: 27876779). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431).
Molecular Pathology Research Laboratory, SA Pathology RCV001542188 SCV001760856 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2

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