ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs)

dbSNP: rs1699147493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227198 SCV001399544 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe144Tyrfs*5) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 23195492). In at least one individual the variant was observed to be de novo. This variant is also known as V144fsX148. ClinVar contains an entry for this variant (Variation ID: 929413). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001194607 SCV001364260 pathogenic Severe myoclonic epilepsy in infancy 2020-02-19 no assertion criteria provided clinical testing

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