ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.992A>C (p.Gln331Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002587568 SCV002946577 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2022-05-06 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. This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 331 of the GRIN2B protein (p.Gln331Pro).
Ambry Genetics RCV002600428 SCV003623231 uncertain significance Inborn genetic diseases 2022-05-26 criteria provided, single submitter clinical testing The c.992A>C (p.Q331P) alteration is located in exon 3 (coding exon 2) of the GRIN2B gene. This alteration results from a A to C substitution at nucleotide position 992, causing the glutamine (Q) at amino acid position 331 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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