ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.4389T>G (p.Asp1463Glu)

dbSNP: rs748047572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310316 SCV001500056 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543549 SCV002938152 uncertain significance Landau-Kleffner syndrome 2022-08-09 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 expected to disrupt GRIN2A protein function. ClinVar contains an entry for this variant (Variation ID: 1012392). This variant has not been reported in the literature in individuals affected with GRIN2A-related conditions. This variant is present in population databases (rs748047572, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1463 of the GRIN2A protein (p.Asp1463Glu).
Ambry Genetics RCV003263940 SCV003978923 uncertain significance Inborn genetic diseases 2023-05-16 criteria provided, single submitter clinical testing The c.4389T>G (p.D1463E) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a T to G substitution at nucleotide position 4389, causing the aspartic acid (D) at amino acid position 1463 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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