ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1821G>A (p.Trp607Ter)

dbSNP: rs1057518700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696677 SCV000825250 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2020-05-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GRIN2B are known to be pathogenic (PMID: 28377535). This variant has not been reported in the literature in individuals with GRIN2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 574682). This sequence change creates a premature translational stop signal (p.Trp607*) in the GRIN2B gene. It is expected to result in an absent or disrupted protein product.

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