ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg)

dbSNP: rs1250662891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001782995 SCV002026427 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001782995 SCV002120347 likely pathogenic Landau-Kleffner syndrome 2022-03-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 433130). This missense change has been observed in individual(s) with clinical features of GRIN2A-related conditions (PMID: 23933819, 29358611). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 79 of the GRIN2A protein (p.Pro79Arg). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects GRIN2A function (PMID: 27288002, 28242877).
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656053 SCV000588329 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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