Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438586 | SCV000534533 | pathogenic | not provided | 2016-12-14 | criteria provided, single submitter | clinical testing | The Q163X nonsense variant in the GRIN2A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q163X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with a diagnosis of GRIN2A-related disorder |
Invitae | RCV000546009 | SCV000638251 | pathogenic | Landau-Kleffner syndrome | 2020-10-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). This variant has not been reported in the literature in individuals with GRIN2A-related disease. ClinVar contains an entry for this variant (Variation ID: 391457). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln163*) in the GRIN2A gene. It is expected to result in an absent or disrupted protein product. |
Institute of Human Genetics, |
RCV000546009 | SCV002026165 | likely pathogenic | Landau-Kleffner syndrome | 2019-01-01 | criteria provided, single submitter | research |