ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003016923 SCV003319486 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 237 of the SCN1A protein (p.Val237Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with generalized epilepsy with febrile seizures, plus (PMID: 35571373; Invitae). ClinVar contains an entry for this variant (Variation ID: 2101470). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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