Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000523823 | SCV000618849 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the GRIN2B gene. The R1057H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1057H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. However, the R1057H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV002527608 | SCV003277532 | benign | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2024-09-09 | criteria provided, single submitter | clinical testing |