ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4244C>T (p.Ser1415Leu)

gnomAD frequency: 0.00001  dbSNP: rs201463390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302345 SCV001491549 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-05-22 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. Experimental studies have shown that this missense change affects GRIN2B function (PMID: 28283559). 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 not expected to disrupt GRIN2B protein function. ClinVar contains an entry for this variant (Variation ID: 1005468). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 28283559). This variant is present in population databases (rs201463390, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1415 of the GRIN2B protein (p.Ser1415Leu).
Revvity Omics, Revvity RCV003130247 SCV003817453 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing

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