ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5315C>T (p.Ala1772Val) (rs121917921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059446 SCV000221927 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000189000 SCV000341355 pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000189000 SCV000242631 pathogenic not provided 2014-03-12 criteria provided, single submitter clinical testing p.Ala1783Val (GCG>GTG): c.5348 C>T in exon 26 of the SCN1A gene (NM_001165963.1) The Ala1783Val variant has been previously reported as a de novo mutation in multiple unrelated patients with Dravet syndrome (Marini et al., 2007; Depienne et al., 2009). This substitution occurs at a position that is highly conserved across species and is located in transmembrane segment S6 in the fourth homologous domain. Therefore, Ala1783Val is considered a disease-causing mutation. The variant is found in INFANT-EPI panel(s).
UniProtKB/Swiss-Prot RCV000059446 SCV000090971 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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