ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)

dbSNP: rs863225037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201173 SCV000255833 pathogenic Severe myoclonic epilepsy in infancy 2014-11-25 criteria provided, single submitter clinical testing
Invitae RCV003588599 SCV004293419 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217248). This premature translational stop signal has been observed in individual(s) with SCN1A-related conditions (PMID: 17347258, 28202706). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1812*) in the SCN1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 198 amino acid(s) of the SCN1A protein.

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