ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)

dbSNP: rs1689294239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228636 SCV001401044 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1710 of the SCN1A protein (p.Phe1710Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant Dravet syndrome (PMID: 29573403). This variant is also known as F1699S. ClinVar contains an entry for this variant (Variation ID: 955916). 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 with a positive predictive value of 95%. 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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