ClinVar Miner

Submissions for variant NM_001165963.2(SCN1A):c.2947del (p.Val983Serfs) (rs794726715)

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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 RCV000180819 SCV000221783 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000627614 SCV000748614 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing The c.2947delG variant in the SCN1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2947delG variant causes a frameshift starting with codon Valine 983, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Val983SerfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2947delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2947delG as a pathogenic variant.

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