Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001968338 | SCV002239375 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs780520468, gnomAD 0.004%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1462185). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 249 of the NEUROD1 protein (p.Tyr249Cys). |
Fulgent Genetics, |
RCV002484816 | SCV002786261 | uncertain significance | Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus | 2021-07-08 | criteria provided, single submitter | clinical testing |