ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1170+1G>T (rs794726765)

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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 RCV000180881 SCV000221850 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx 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).

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