ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1243G>A (p.Glu415Lys) (rs1345163538)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649497 SCV000771326 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2017-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 415 of the GATA2 protein (p.Glu415Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with myelodysplastic syndrome-related acute myeloid leukemia (PMID: 26702063). 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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