Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000482727 | SCV000574273 | uncertain significance | not provided | 2017-03-21 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the GRIN2A gene. The S1089L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S1089L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S1089L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with GRIN2A-related disorders (Stenson et al., 2014). 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 |
RCV003741190 | SCV004386433 | likely benign | Landau-Kleffner syndrome | 2023-11-03 | criteria provided, single submitter | clinical testing |