ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4978_4979CT[1] (p.Phe1661fs) (rs1559105301)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685119 SCV000812591 pathogenic Early infantile epileptic encephalopathy 2018-05-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SCN1A gene (p.Phe1661Cysfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 349 amino acids of the SCN1A protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related disease. Different truncations (p.Lys1846Serfs*11, p.Arg1886*, p.Ala1919Leufs*13) that lie downstream of this variant have been determined to be pathogenic (PMID: 27465585, 11359211, 14504318, 21719429, 17054684, 18930999). This suggests that deletion of this region of the SCN1A protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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