ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) (rs387906633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Pathology Research Laboratory,SA Pathology RCV001542161 SCV001760829 likely pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS3_Supporting, PS4_Supporting, PM1, PM2, PM5, PP3
Johns Hopkins Genomics, Johns Hopkins University RCV001543679 SCV001762369 likely pathogenic not provided 2021-07-02 criteria provided, single submitter clinical testing GATA2 c.1117T>C has been previously reported in a patient with Emberger syndrome. This GATA2 variant is absent from a large population dataset but has been reported in ClinVar (Variation ID:29720 ). p.Cys373Arg is predicted to alter one of the invariant zinc-coordinating cysteine residues in the second C4 zinc-finger domain of GATA2. In vitro functional studies indicate that p.Cys373Arg impacts the function of GATA2 by altering its interaction with the hematopoietic differentiation factor PU.1 and reducing its transactivation activity and DNA binding affinity. We consider GATA2 c.1117T>C to be likely pathogenic.
OMIM RCV000022572 SCV000043861 pathogenic Lymphedema, primary, with myelodysplasia 2011-09-04 no assertion criteria provided literature only

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