ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4540C>T (p.Arg1514Ter) (rs794726752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180863 SCV000221828 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000188962 SCV000242593 pathogenic not provided 2016-06-29 criteria provided, single submitter clinical testing The Arg1525Stop variant in the SCN1A gene has been reported in several individuals with SCN1A-related disorders (Kearney et al., 2006; Harkin et al., 2007). This variant is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. This variant has been seen apparently mosaic.

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