ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.1677G>A (p.Trp559Ter) (rs398122825)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627229 SCV000748218 pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing The W559X nonsense variant in the GRIN2B gene has been reported previously as a de novo change in an individual with autsim spectrum disorder and intellectual disability (O'Roak et al., 2012). To our knowledge, this individual represents the only reported individual to harbor this variant. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W559X variant in not observed in large population cohorts (Lek et al., 2016). We interpret this variant as pathogenic, and it's presence is consistent with the diagnosis of a GRIN2B-related disorder in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV000032864 SCV001335407 pathogenic Mental retardation, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
OMIM RCV000032864 SCV000056633 pathogenic Mental retardation, autosomal dominant 6 2012-12-21 no assertion criteria provided literature only

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