ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3562G>A (p.Gly1188Ser)

gnomAD frequency: 0.00001  dbSNP: rs367543149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514510 SCV003247960 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-02-28 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 not expected to disrupt GRIN2B protein function. ClinVar contains an entry for this variant (Variation ID: 98434). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (rs367543149, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1188 of the GRIN2B protein (p.Gly1188Ser).
Psychiatry Genetics Yale University RCV000084725 SCV000116861 not provided not provided no assertion provided not provided

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