ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)

dbSNP: rs397514557
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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 RCV000032866 SCV002026450 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
Invitae RCV000032866 SCV003441821 pathogenic Landau-Kleffner syndrome 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 649 of the GRIN2A protein (p.Leu649Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of GRIN2A-related conditions (PMID: 23033978). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 39662). 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.
OMIM RCV000032866 SCV000056635 pathogenic Landau-Kleffner syndrome 2018-10-18 no assertion criteria provided literature only

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