ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) (rs794726697)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180798 SCV000221753 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000423112 SCV000515825 pathogenic not provided 2015-03-05 criteria provided, single submitter clinical testing The R865X nonsense variant in the SCN1A gene has been reported previously in association with intractableepilepsy and Dravet syndrome (Wang et al., 2012; Lim et al., 2011; SCN1A Variant Database). It was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. Therefore, the R865X variant is considered pathogenic.
Invitae RCV000530080 SCV000633831 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2017-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 865 (p.Arg865*) of 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. This particular variant has been reported in the literature in several individuals affected with Dravet syndrome, severe myoclonic epilepsy in infancy, and intractable epilepsy (PMID: 12083760, 23195492, 21868258, 18930999, 18076640). This variant is also known as C2560T (R854X). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000180798 SCV001364266 pathogenic Severe myoclonic epilepsy in infancy 2020-02-19 no assertion criteria provided clinical testing

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