ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.416_417del (p.Ser139fs)

dbSNP: rs2107672708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory, SA Pathology RCV001542179 SCV001760847 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PVS1, PS4_Supporting, PM2
GeneDx RCV004719166 SCV005325983 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing Frameshift 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: 26702063, 34387894, 29906059)

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