ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.147C>A (p.Phe49Leu)

dbSNP: rs1474218678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059515 SCV001224141 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2019-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 49 of the GATA2 protein (p.Phe49Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant has not been reported in the literature in individuals with GATA2-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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