ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1559C>T (p.Ser520Leu)

gnomAD frequency: 0.00001  dbSNP: rs1211941493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763088 SCV001989200 uncertain significance not provided 2019-04-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33391346)
Invitae RCV002032787 SCV002260279 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-02-22 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. 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 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 replaces serine with leucine at codon 520 of the GRIN2B protein (p.Ser520Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.

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