ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3344G>T (p.Arg1115Leu)

gnomAD frequency: 0.00001  dbSNP: rs199514711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001998829 SCV002269404 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-04-18 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1115 of the GRIN2B protein (p.Arg1115Leu). This variant is present in population databases (rs199514711, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. 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.
CeGaT Center for Human Genetics Tuebingen RCV003395336 SCV004134466 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing GRIN2B: PP2, BP4

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