ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1160C>A (p.Thr387Asn) (rs1060500092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459207 SCV000541518 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2016-12-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 387 of the GATA2 protein (p.Thr387Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GATA2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Molecular Pathology Research Laboratory,SA Pathology RCV001542174 SCV001760842 likely pathogenic Lymphedema, primary, with myelodysplasia; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM1, PM2, PP3

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