ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly)

dbSNP: rs794727364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176325 SCV000227959 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV003765093 SCV004573361 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 SCN2A protein function. ClinVar contains an entry for this variant (Variation ID: 195695). This missense change has been observed in individual(s) with clinical features of SCN2A-related conditions (PMID: 29056246; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1386 of the SCN2A protein (p.Cys1386Gly).

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