ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)

dbSNP: rs121918778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000059529 SCV001136018 likely pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002514308 SCV003524719 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-02-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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: 68649). This variant is also known as F1682S. This missense change has been observed in individual(s) with clinical features of SCN1A-related conditions (PMID: 14738421). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1692 of the SCN1A protein (p.Phe1692Ser).
UniProtKB/Swiss-Prot RCV000059529 SCV000091060 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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