ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser)

dbSNP: rs901717931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816728 SCV000957249 uncertain significance Landau-Kleffner syndrome 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 302 of the GRIN2A protein (p.Ala302Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with GRIN2A-related conditions (PMID: 32722525). This missense change has been observed in at least one individual who was not affected with GRIN2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 659687). 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 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.
Illumina Laboratory Services, Illumina RCV000816728 SCV001251563 uncertain significance Landau-Kleffner syndrome 2020-01-29 criteria provided, single submitter clinical testing The GRIN2A c.904G>T (p.Ala302Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Ala302Ser variant is classified as a variant of unknown significance for GRIN2A-related speech disorders and epilepsy.

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