ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)

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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 RCV003050881 SCV003444858 uncertain significance Landau-Kleffner syndrome 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1201 of the GRIN2A protein (p.Ser1201Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIN2A-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 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.
Ambry Genetics RCV004070185 SCV004877930 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.3602G>A (p.S1201N) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a G to A substitution at nucleotide position 3602, causing the serine (S) at amino acid position 1201 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV003050881 SCV005328643 likely benign Landau-Kleffner syndrome 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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