ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2906C>T (p.Thr969Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003793348 SCV004581171 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-07-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 969 of the GRIN2B protein (p.Thr969Met). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected 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.
Ambry Genetics RCV004366588 SCV004877936 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.2906C>T (p.T969M) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a C to T substitution at nucleotide position 2906, causing the threonine (T) at amino acid position 969 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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