ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)

dbSNP: rs1553547448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001375626 SCV001572549 likely pathogenic Severe myoclonic epilepsy in infancy 2021-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003753177 SCV004492008 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-04-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 SCN1A protein function. ClinVar contains an entry for this variant (Variation ID: 1065177). This missense change has been observed in individual(s) with generalized and focal seizures (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 leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 373 of the SCN1A protein (p.Leu373Ser).

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