ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys)

dbSNP: rs398123597
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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) RCV000723573 SCV000111467 uncertain significance not provided 2013-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000723573 SCV000242598 uncertain significance not provided 2020-01-08 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, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution is predicted to be within the intracellular loop between the third and fourth homologous domain; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001854405 SCV002147762 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1528 of the SCN1A protein (p.Asn1528Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant SCN1A-related conditions (PMID: 28012175; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 93653). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.

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