ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)

dbSNP: rs2105398463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002545228 SCV003459839 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SCN2A function (PMID: 32400968). 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: 1342682). This missense change has been observed in individual(s) with SCN2A-related conditions (PMID: 30185235, 30776697, 32400968, 32613771). 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 isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1571 of the SCN2A protein (p.Ile1571Thr).
Neurology Department, Shenzhen Children's Hospital RCV001847356 SCV002099478 pathogenic West syndrome; Early infantile epileptic encephalopathy with suppression bursts 2022-02-16 no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV002319728 SCV002605498 not provided Complex neurodevelopmental disorder no assertion provided literature only

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