ClinVar Miner

Submissions for variant NM_001165963.1(SCN1A):c.4002+1953_4221del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692745 SCV000820585 pathogenic Early infantile epileptic encephalopathy 2018-06-23 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 21 (c.4002+1953_4221del) of the SCN1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SCN1A-related disease. Variants that disrupt the p.Ala1370 amino acid residue in SCN1A have been observed in affected individuals (22028529, Invitae). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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