ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys)

dbSNP: rs758517602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306418 SCV001495790 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-11-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1008996). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is present in population databases (rs758517602, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 423 of the GATA2 protein (p.Glu423Lys).
Baylor Genetics RCV003469531 SCV004198650 uncertain significance Acute myeloid leukemia 2023-06-02 criteria provided, single submitter clinical testing

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