ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)

dbSNP: rs121918780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569540 SCV001793645 pathogenic not provided 2021-01-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the transmembrane segment S5 of the first homologous domain; This variant is associated with the following publications: (PMID: 15087100, 28150151)
UniProtKB/Swiss-Prot RCV000059552 SCV000091084 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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