ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1500G>A (p.Glu500=)

dbSNP: rs886049102
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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 RCV003790091 SCV004577582 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-08-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 500 of the GRIN2B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GRIN2B protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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