ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.2926_2928del (p.Lys976del) (rs876661102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000223164 SCV000279534 likely pathogenic not provided 2015-10-21 criteria provided, single submitter clinical testing The de novo c.2926_2928delAAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge, and in-frame deletions and duplications have not been reported in the GRIN2B gene in association with epilepsy (Stenson et al., 2014). The c.2926_2928delAAG variant 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 c.2926_2928delAAG variant results in an in-frame deletion of a single Lysine residue, denoted p.Lys976del. This deletion occurs at a position that is conserved across species. Based on the available information, the c.2926_2928delAAG variant is likely pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001172341 SCV001335381 uncertain significance 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).

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