Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000180881 | SCV000221850 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Gene |
RCV000433816 | SCV000514488 | pathogenic | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | The 1170+1 G>T splice site variant has been previously reported as a de novo change in an individual with Dravet syndrome (Petrelli et al., 2012). The c.1170+1 G>T variant has also been reported in another individual with Dravet sydrome; it was found to be inherited from an unaffected mother who was mosaic for the c.1170+1 G>T variant (Xu et al., 2015). This pathogenic variant destroys the canonical splice donor site in intron 8 and is expected to cause abnormal gene splicing. The c.1170+1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |