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
Labcorp Genetics (formerly Invitae), Labcorp RCV000546009 SCV000638251 pathogenic Landau-Kleffner syndrome 2020-10-01 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). Loss-of-function variants in GRIN2A are known to be pathogenic (PMID: 23933819, 23933820). For these reasons, this variant has been classified as Pathogenic.
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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