ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.99dup (p.Ser34fs) (rs398122823)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493526 SCV000583352 likely pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing The c.99dupC variant in the GRIN2B gene has been reported previously as a de novo change in an individual with autism (O'Roak et al., 2012). The duplication causes a frameshift starting with codon Serine 34, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Ser34GlnfsX25. This 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 RCV000032861 SCV001335383 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).
Diagnostic Laboratory, Strasbourg University Hospital RCV001260648 SCV001437740 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
OMIM RCV000032861 SCV000056630 pathogenic Mental retardation, autosomal dominant 6 2012-12-21 no assertion criteria provided literature only

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