ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) (rs1131691693)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494292 SCV000582643 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing The c.3371_3372delTT variant in the SCN1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3371_3372delTT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3371_3372delTT as a pathogenic variant.
Invitae RCV001037785 SCV001201217 pathogenic Early infantile epileptic encephalopathy 2019-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1124*) 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 not been reported in the literature in individuals with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 429949). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.

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