ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)

dbSNP: rs1555488119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544675 SCV000638231 pathogenic Landau-Kleffner syndrome 2023-03-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 464051). 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. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with Landau-Kleffner syndrome (PMID: 29056244). In at least one individual the variant was observed to be de novo. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 760 of the GRIN2A protein (p.Gly760Ser). This variant is not present in population databases (gnomAD no frequency).
Institute of Human Genetics, University of Leipzig Medical Center RCV000544675 SCV002026151 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
GeneDx RCV002469190 SCV002765216 pathogenic not provided 2022-12-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27839871, 29896722, 29056244, 34726335)
Institute of Human Genetics, University Hospital Muenster RCV003128410 SCV003804846 likely pathogenic See cases 2024-08-20 criteria provided, single submitter clinical testing ACMG categories: PM2,PM1,PP3,PP2

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