ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2879dup (p.Met960fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004698412 SCV005196608 likely pathogenic Severe myoclonic epilepsy in infancy 2024-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.(Met960Ilefs*37)) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. (PMID: 29891560) Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant is not present in population databases (gnomAD - v4.1.0). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. (PVS1_very strong, PM2_moderate).

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