ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)

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Total submissions: 2
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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 RCV002286479 SCV002576433 uncertain significance Developmental and epileptic encephalopathy, 11 2022-08-23 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD, PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003774946 SCV004604149 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-08-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 733 of the SCN2A protein (p.Ala733Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with SCN2A-related conditions (PMID: 28379373). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1707519). 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. For these reasons, this variant has been classified as Pathogenic.

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