ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn)

gnomAD frequency: 0.00001  dbSNP: rs1060500092
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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 RCV000459207 SCV000541518 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 387 of the GATA2 protein (p.Thr387Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of GATA2 deficiency (PMID: 31340620, 34387894). ClinVar contains an entry for this variant (Variation ID: 404089). 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.
Molecular Pathology Research Laboratory, SA Pathology RCV001542174 SCV001760842 likely pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM1, PM2, PP3

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