ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.961C>T (p.Leu321Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005212020 SCV005857347 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 321 of the GATA2 protein (p.Leu321Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with GATA2-related conditions (PMID: 23560626, 31340620). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt GATA2 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects GATA2 function (PMID: 22649106, 35181392). 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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