ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn)

dbSNP: rs1567337914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693871 SCV000822293 likely pathogenic Landau-Kleffner syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 461 of the GRIN2A protein (p.Ile461Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with early onset epilepsy (Invitae). ClinVar contains an entry for this variant (Variation ID: 560645). 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 with a positive predictive value of 95%. 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.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678803 SCV000804984 uncertain significance Childhood epilepsy with centrotemporal spikes 2017-03-13 no assertion criteria provided clinical testing

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