ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)

dbSNP: rs1057524089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, University of Leipzig Medical Center RCV000546009 SCV002026165 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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