ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1329-8T>A

dbSNP: rs201154780
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223256 SCV001395395 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2019-07-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GRIN2B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the GRIN2B gene. It does not directly change the encoded amino acid sequence of the GRIN2B protein.

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