ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) (rs794726752)

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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 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.
Invitae RCV001382664 SCV001581559 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1525*) 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 variant has been observed in individual(s) with SCN1A-related conditions (PMID: 16458823, 28079314, 27465585). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 189911). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000188962 SCV001809042 pathogenic not provided no assertion criteria provided clinical testing

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