ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)

dbSNP: rs387906632
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812052 SCV000952354 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-09-30 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. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of GATA2 deficiency (PMID: 21892158, 23502222, 27894982). ClinVar contains an entry for this variant (Variation ID: 29719). For these reasons, this variant has been classified as Pathogenic.
Molecular Pathology Research Laboratory, SA Pathology RCV001542112 SCV001760780 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4, PM2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003325944 SCV003853412 pathogenic Monocytopenia with susceptibility to infections 2023-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000984812 SCV003918731 pathogenic not provided 2023-04-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23502222, 33684095, 21892158, 32770553, 34529785, 30538114, 27894982, 35753512)
OMIM RCV000022571 SCV000043860 pathogenic Deafness-lymphedema-leukemia syndrome 2011-09-04 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003891441 SCV001132693 pathogenic GATA2-related disorder 2024-03-04 no assertion criteria provided clinical testing The GATA2 c.1009C>T variant is predicted to result in premature protein termination (p.Arg337*). This variant has been reported to be causative for GATA2-related disorders including MonoMAC, and primary lymphedema and predisposition to acute myeloid leukemia (Ostergaard et al. 2011. PubMed ID: 21892158; Hsu et al. 2013. PubMed ID: 23502222). This variant is not present in a large population database and has been interpreted as pathogenic in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/29719/). Nonsense variants in GATA2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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