Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000471767 | SCV000552117 | uncertain significance | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2020-04-24 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GRIN2B-related disease. This sequence change replaces serine with asparagine at codon 225 of the GRIN2B protein (p.Ser225Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. |