ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) (rs201670483)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503279 SCV000595071 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000503279 SCV000719453 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000761818 SCV000777270 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761818 SCV000892019 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000655340 SCV000898732 uncertain significance Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 2018-04-25 criteria provided, single submitter clinical testing GRIN2B NM_000834.3 exon 13 p.Lys1327= (c.3981G>A): This variant has not been reported in the literature but is present in 18/30780 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201670483). This variant is present in ClinVar (Variation ID:435382). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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