ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)

dbSNP: rs886042528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725185 SCV000334735 likely pathogenic not provided 2015-09-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000314247 SCV000807295 likely pathogenic Severe myoclonic epilepsy in infancy criteria provided, single submitter clinical testing
GeneDx RCV000725185 SCV001822952 pathogenic not provided 2020-02-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution is predicted to be in the cytoplasmic loop between first and second homologous domains; Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 31864146, 29056246, 22848613, 25326635, 24776920, 17347258, 23891399)

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