ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter)

dbSNP: rs1574051496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816654 SCV000957171 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 659624). This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 12083760, 18076640). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1271*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999).

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