ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) (rs375349195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234722 SCV000291137 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-12-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 61 of the GATA2 protein (p.Ala61Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs375349195, ExAC 0.002%). This variant has been reported in an individual affected with acute myeloid leukemia (PMID:21892162). ClinVar contains an entry for this variant (Variation ID: 241721). 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.
Fulgent Genetics,Fulgent Genetics RCV000765713 SCV000897074 uncertain significance Acute myeloid leukemia; Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Myelodysplastic syndrome 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000984835 SCV001132719 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing

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