ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.920G>A (p.Arg307His)

dbSNP: rs1557020556
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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 RCV001917899 SCV002170709 uncertain significance Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2021-10-18 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GATA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 307 of the GATA1 protein (p.Arg307His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
OMIM RCV002264832 SCV002540573 pathogenic Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 2024-10-11 no assertion criteria provided literature only

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