ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn)

dbSNP: rs779797858
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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 RCV001368018 SCV001564393 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 405 of the GATA2 protein (p.Lys405Asn). This variant is present in population databases (rs779797858, gnomAD 0.003%). This missense change has been observed in individual(s) with lymphedema (PMID: 29906362). ClinVar contains an entry for this variant (Variation ID: 1058839). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GATA2 protein function with a positive predictive value of 95%. 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.
Baylor Genetics RCV003469607 SCV004198635 uncertain significance Acute myeloid leukemia 2023-08-05 criteria provided, single submitter clinical testing

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