ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe)

dbSNP: rs1697647054
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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 RCV001979725 SCV002221603 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 525 of the SCN1A protein (p.Ser525Phe). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with Dravet syndrome (PMID: 18930999). In at least one individual the variant was observed to be de novo.

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