ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer)

dbSNP: rs768767517
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000984842 SCV001132731 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386684 SCV001587018 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2020-08-02 criteria provided, single submitter clinical testing Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). This variant has been observed in individual(s) with GATA2 deficiency (PMID: 21765025, 26702063). This variant is also known as c.599_600insG in the literature. ClinVar contains an entry for this variant (Variation ID: 29715). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ser201*) in the GATA2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Molecular Pathology Research Laboratory, SA Pathology RCV001542189 SCV001760857 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2
Genetic Services Laboratory, University of Chicago RCV000984842 SCV002069674 pathogenic not provided 2021-02-23 criteria provided, single submitter clinical testing
OMIM RCV000022567 SCV000043856 pathogenic Monocytopenia with susceptibility to infections 2011-09-08 no assertion criteria provided literature only

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