ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1090G>C (p.Ala364Pro)

dbSNP: rs766504293
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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 RCV002942617 SCV003272814 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-07-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 364 of the GATA2 protein (p.Ala364Pro). ClinVar contains an entry for this variant (Variation ID: 2061299). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GATA2 protein function.
Ambry Genetics RCV004983207 SCV005596812 uncertain significance Inborn genetic diseases 2024-12-08 criteria provided, single submitter clinical testing The p.A364P variant (also known as c.1090G>C), located in coding exon 4 of the GATA2 gene, results from a G to C substitution at nucleotide position 1090. The alanine at codon 364 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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