Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001967196 | SCV002202385 | uncertain significance | Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 2021-12-15 | 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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 298 of the GATA1 protein (p.Arg298Gln). 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. |
Fulgent Genetics, |
RCV002491967 | SCV002778541 | uncertain significance | Down syndrome; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 2022-05-06 | criteria provided, single submitter | clinical testing |