ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.727C>T (p.Arg243Trp)

gnomAD frequency: 0.00001  dbSNP: rs782632688
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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 RCV001909770 SCV002186906 uncertain significance Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2024-04-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 243 of the GATA1 protein (p.Arg243Trp). This variant is present in population databases (rs782632688, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with GATA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1408044). 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 GATA1 protein function with a positive predictive value of 80%. 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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