ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1806C>A (p.Ile602=)

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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 RCV005219531 SCV005856074 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-05-06 criteria provided, single submitter clinical testing This sequence change affects codon 602 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 is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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