Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230424 | SCV001402902 | uncertain significance | Landau-Kleffner syndrome | 2019-08-25 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GRIN2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 793 of the GRIN2A protein (p.Thr793Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. |
Gene |
RCV001760228 | SCV001989471 | uncertain significance | not provided | 2019-11-20 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV001230424 | SCV002803920 | uncertain significance | Landau-Kleffner syndrome | 2021-11-05 | criteria provided, single submitter | clinical testing |