Submissions for variant NM_001145661.2(GATA2):c.748C>T (p.Pro250Ser) (rs78245253)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000547722	SCV000651520	uncertain significance	Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency	2019-04-30	criteria provided, single submitter	clinical testing	This sequence change replaces proline with serine at codon 250 of the GATA2 protein (p.Pro250Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs78245253, ExAC 0.01%). This variant has not been reported in the literature in individuals with GATA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 472465). 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: "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.

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