ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3836_3837del (p.Tyr1279fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287596 SCV002577689 pathogenic Developmental and epileptic encephalopathy, 6 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM6;PM2_supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV003097722 SCV003310284 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr1279Phefs*14) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999).

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