ClinVar Miner

Submissions for variant NM_001145661.2(GATA2):c.809T>G (p.Phe270Cys) (rs776267955)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813214 SCV000953560 uncertain significance Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-08-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 270 of the GATA2 protein (p.Phe270Cys). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is present in population databases (rs776267955, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.

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