ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val)

dbSNP: rs1948652423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bruce Lefroy Centre, Murdoch Childrens Research Institute RCV001072144 SCV001235710 likely pathogenic Intellectual disability, autosomal dominant 6 2020-01-01 criteria provided, single submitter research PM1, PM2, PM6, PP2
Invitae RCV001862473 SCV002228735 pathogenic Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-02-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 864861). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GRIN2B protein function. This missense change has been observed in individual(s) with clinical features of GRIN2B-related conditions (PMID: 33604570; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 813 of the GRIN2B protein (p.Leu813Val).

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