ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2946+1G>T (rs794726772)

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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 RCV000180888 SCV000221860 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000188902 SCV000242532 pathogenic not provided 2016-06-20 criteria provided, single submitter clinical testing The c.2946+1 G>T splice site variant in the SCN1A gene has been previously reported as a de novo variant in a patient with febrile and generalized tonic-clonic seizures and myoclonic jerks beginning around 6 months of age (Harkin et al., 2007). This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.2946+1 G>T variant destroys the canonical splice donor site in intron 15, and is expected to cause abnormal gene splicing.

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