ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510676 SCV002820185 likely pathogenic Severe myoclonic epilepsy in infancy criteria provided, single submitter clinical testing The frameshift deletion p.F408Sfs*7 in SCN1A (NM_001165963.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.F408Sfs*7 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation caused a frameshift mutation. The frame shifted sequence continues 7 residues until a stop codon is reached. The p.F408Sfs*7 variant is a loss of function variant in the gene SCN1A, which is intolerant of Loss of Function variants. For these reasons, this variant has been classified as Likely Pathogenic.

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