ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227198 SCV001399544 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-09-01 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of severe myoclonic epilepsy in infancy (PMID: 14738421, 23195492). The variant was observed to be de novo. This variant is also known as V144fsX148 in the literature. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). 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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