ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4108G>A (p.Gly1370Arg)

gnomAD frequency: 0.00001  dbSNP: rs754738111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308732 SCV001498201 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1370 of the GRIN2B protein (p.Gly1370Arg). This variant is present in population databases (rs754738111, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GRIN2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010999). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GRIN2B protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV004034181 SCV004879665 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The c.4108G>A (p.G1370R) alteration is located in exon 13 (coding exon 12) of the GRIN2B gene. This alteration results from a G to A substitution at nucleotide position 4108, causing the glycine (G) at amino acid position 1370 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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