ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552269 SCV001772927 pathogenic not provided 2019-12-20 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; Located within the pore forming loop between the S5 and S6 transmembrane segments of the second homologous domain; This variant is associated with the following publications: (PMID: 32090326, 18930999, 28150151)
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001535825 SCV001752423 pathogenic Severe myoclonic epilepsy in infancy no assertion criteria provided clinical testing

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