ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) (rs779614747)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000180864 SCV000255834 pathogenic Severe myoclonic epilepsy in infancy 2014-05-30 criteria provided, single submitter clinical testing
Center for Bioinformatics, Peking University RCV000180864 SCV000221829 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000189014 SCV000242645 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing p.Arg1886Stop (CGA>TGA): c.5656 C>T in exon 26 of the SCN1A gene (NM_001165963.1) The Arg1886Stop nonsense mutation in the SCN1A gene has been reported previously in association with Dravet syndrome (Mancardi et al., 2006; Harkin et al., 2007; Depienne et al., 2009). This mutation is predicted to cause loss of normal protein function through protein truncation. The variant is found in EPILEPSY panel(s).
Invitae RCV000692766 SCV000820608 pathogenic Early infantile epileptic encephalopathy 2018-09-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SCN1A gene (p.Arg1886*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 124 amino acids of the SCN1A protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (PMID: 17054684, 18930999, 22409937, 17347258). In a number of these individuals, the variant was reported to be de novo (PMID: 17054684, 18930999). ClinVar contains an entry for this variant (Variation ID: 189912). For these reasons, this variant has been classified as Pathogenic.

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