ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.427_430del (p.Val143fs)

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 RCV001917437 SCV002159902 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-05-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val143Leufs*2) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related conditions. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002282634 SCV002571580 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18930999, 17347258)

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