ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)

dbSNP: rs121917752
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810006 SCV000950192 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 223 of the SCN2A protein (p.Arg223Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with benign familial neonatal-infantile seizures (PMID: 15048894, 23360469, 29215089). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12879). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SCN2A protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects SCN2A function (PMID: 17021166). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253574 SCV001429363 likely pathogenic Developmental and epileptic encephalopathy, 11 2019-08-16 criteria provided, single submitter clinical testing
OMIM RCV000013739 SCV000033986 pathogenic Seizures, benign familial infantile, 3 2004-04-01 no assertion criteria provided literature only
Neurology Department, Shenzhen Children's Hospital RCV001847597 SCV002099487 pathogenic Benign familial infantile epilepsy 2022-02-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV002274897 SCV002562862 likely pathogenic Seizure no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV002319422 SCV002605489 not provided Complex neurodevelopmental disorder no assertion provided literature only

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