ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1230del (p.Ser411fs)

dbSNP: rs1064796087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486955 SCV000572511 pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing The c.1230delC pathogenic variant in the SCN1A gene causes a frameshift starting with codon Serine 411, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Ser411HisfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of SCN1A-related disorder in this individual.

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