ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu)

gnomAD frequency: 0.00002  dbSNP: rs1436853714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057534 SCV001222032 uncertain significance Landau-Kleffner syndrome 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 896 of the GRIN2A protein (p.Lys896Glu). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 852834). Invitae Evidence 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 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 GRIN2A 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.
GeneDx RCV001772273 SCV001993316 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004031817 SCV004877927 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.2686A>G (p.K896E) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a A to G substitution at nucleotide position 2686, causing the lysine (K) at amino acid position 896 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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