ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2834_2837dup (p.Cys946Ter)

dbSNP: rs1948606788
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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 RCV001247680 SCV001421117 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2019-10-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GRIN2B gene (p.Cys946*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 539 amino acids of the GRIN2B protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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