ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1345G>T (p.Glu449Ter)

dbSNP: rs1555112186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655318 SCV000777248 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2019-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu449*) in the GRIN2B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GRIN2B-related conditions. Loss-of-function variants in GRIN2B are known to be pathogenic (PMID: 28377535). For these reasons, this variant has been classified as Pathogenic.

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