Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002917831 | SCV003252310 | uncertain significance | Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 2024-01-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 54 of the GATA1 protein (p.Thr54Ser). This variant is not present in population databases (gnomAD no frequency). 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: 2044978). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Ambry Genetics | RCV004973696 | SCV005596748 | uncertain significance | Inborn genetic diseases | 2024-09-10 | criteria provided, single submitter | clinical testing | The c.160A>T (p.T54S) alteration is located in exon 2 (coding exon 1) of the GATA1 gene. This alteration results from a A to T substitution at nucleotide position 160, causing the threonine (T) at amino acid position 54 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |