Submissions for variant NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) (rs374457534)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000546615	SCV000651491	uncertain significance	Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency	2019-12-23	criteria provided, single submitter	clinical testing	This sequence change replaces alanine with valine at codon 411 of the GATA2 protein (p.Ala411Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs374457534, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with GATA2-related disease. ClinVar contains an entry for this variant (Variation ID: 472438). 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: "Deleterious"; PolyPhen-2: "Benign"; 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	RCV000765710	SCV000897071	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

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