Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000479065 | SCV000573470 | uncertain significance | not provided | 2017-11-02 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the GRIN2A gene. The R899Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R899Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R899Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Ambry Genetics | RCV003372728 | SCV004093206 | uncertain significance | Inborn genetic diseases | 2023-08-21 | criteria provided, single submitter | clinical testing | The c.2696G>A (p.R899Q) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a G to A substitution at nucleotide position 2696, causing the arginine (R) at amino acid position 899 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |