ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.1242C>G (p.Phe414Leu) (rs751577185)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812900 SCV000953230 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2019-02-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 414 of the GATA2 protein (p.Phe414Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs751577185, ExAC 0.001%). This variant has not been reported in the literature in individuals with GATA2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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