ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter)

dbSNP: rs1553520107
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV002293381 SCV002586268 pathogenic Developmental and epileptic encephalopathy 6B 2022-06-17 criteria provided, single submitter clinical testing The variant c.5476G>T (p.Glu1826*) in the SCN1A gene is reported as pathogenic in LOVD database v.3.0 (genomic variant: #0000345198). The variant creates a premature stop codon at amino acid position Glu1826 which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). The variant falls within a hot spot region, where other nonsense and frameshift variants are reported ad pathogenic. There is no information on frequency in gnomAD or 1000 Genomes Project.

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