ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4240G>A (p.Ala1414Thr)

dbSNP: rs140744818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002051396 SCV002111538 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2020-11-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GRIN2B-related conditions. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1414 of the GRIN2B protein (p.Ala1414Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
GeneDx RCV004815656 SCV005439656 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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