ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) (rs121918736)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059477 SCV000221769 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV001548630 SCV001768575 likely pathogenic not provided 2019-03-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28150151, 20431604)
UniProtKB/Swiss-Prot RCV000059477 SCV000091002 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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