ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) (rs767045134)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180869 SCV000221836 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001071061 SCV001236343 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-01-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 785 of the SCN1A protein (p.Met785Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of SCN1A-related conditions (PMID: Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 189917). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 5

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