ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter)

dbSNP: rs1057521810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445092 SCV000524635 likely pathogenic not provided 2016-03-03 criteria provided, single submitter clinical testing A W55X variant that is likely pathogenic has been identified in the GRIN2A gene. The W55X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W55X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Institute of Human Genetics, University of Leipzig Medical Center RCV001782904 SCV002026162 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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