Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000180967 | SCV000221949 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002316981 | SCV000850082 | pathogenic | Inborn genetic diseases | 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. |