ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter) (rs1574281711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037788 SCV001201220 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu180*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This nonsense change has been observed in an individual affected with Dravet syndrome (PMID: 28202706). ClinVar contains an entry for this variant (Variation ID: 836613). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089717 SCV001245202 pathogenic Severe myoclonic epilepsy in infancy 2020-02-14 criteria provided, single submitter clinical testing

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