Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002012573 | SCV002280120 | uncertain significance | not provided | 2021-08-02 | 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This variant is present in population databases (rs773755753, ExAC 0.01%). This sequence change replaces glutamic acid with lysine at codon 32 of the NEUROD1 protein (p.Glu32Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. |
| Fulgent Genetics, |
RCV002497988 | SCV002806789 | uncertain significance | Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus | 2022-01-05 | criteria provided, single submitter | clinical testing |