ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) (rs794726839)

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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 RCV000180967 SCV000221949 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Ambry Genetics RCV000719216 SCV000850082 pathogenic History of neurodevelopmental disorder 2016-07-07 criteria provided, single submitter clinical testing The p.A1662V pathogenic mutation (also known as c.4985C>T), located in coding exon 26 of the SCN1A gene, results from a C to T substitution at nucleotide position 4985. The alanine at codon 1662 is replaced by valine, an amino acid with similar properties. This alteration has been identified in a patient with severe myoclonic epilepsy borderline (Wang JW et al. Epilepsy Res., 2012 Dec;102:195-200). In addition, this alteration was reportedly de novo in a patient with febrile seizures as an infant and myoclonic seizures later in life (Xu X et al. Hum. Mutat., 2015 Sep;36:861-72). Based on the available evidence, this variant is classified as a pathogenic mutation.

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