ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) (rs768767517)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000984842 SCV001132731 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001386684 SCV001587018 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2020-08-02 criteria provided, single submitter clinical testing 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. 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 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). 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 RCV001542189 SCV001760857 pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2
OMIM RCV000022567 SCV000043856 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2011-09-08 no assertion criteria provided literature only

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