ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) (rs1553770524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527772 SCV000651481 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2017-06-27 criteria provided, single submitter clinical testing This variant, c.1019_1023delinsGCCTT, replaces serine with cysteine at codon 340 of the GATA2 protein and replaces alanine with leucine at codon 341 of the GATA2 protein (p.Ser340_Ala341delinsCysLeu). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant 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 the p.Ser340Cys missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15") or the p.Ala341Leu missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, this variant has uncertain impact on GATA2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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