ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.843G>T (p.Lys281Asn)

dbSNP: rs2068685897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202774 SCV001373900 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-01-15 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with GATA2-related conditions. This sequence change replaces lysine with asparagine at codon 281 of the GATA2 protein (p.Lys281Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV003462678 SCV004198649 uncertain significance Acute myeloid leukemia 2023-06-14 criteria provided, single submitter clinical testing

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