Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Jiangsu Institute of Hematology, |
RCV002291019 | SCV002500009 | likely pathogenic | Hereditary spherocytosis type 4 | 2022-03-01 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV003093866 | SCV003198287 | uncertain significance | not provided | 2022-05-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SLC4A1-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 790 of the SLC4A1 protein (p.Gly790Asp). This variant is not present in population databases (gnomAD no frequency). 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"). 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. |