ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)

dbSNP: rs121917951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693267 SCV000821128 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-03-23 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ser1773 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 68568). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 17054684). 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 serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1773 of the SCN1A protein (p.Ser1773Phe).
UniProtKB/Swiss-Prot RCV000059443 SCV000090968 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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