ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)

dbSNP: rs796052995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188920 SCV000242550 pathogenic not provided 2012-09-07 criteria provided, single submitter clinical testing p.Gln1203Stop (CAA>TAA):c.3607 C>T in exon 18 of the SCN1A gene (NM_001165963.1) The Gln1203Stop nonsense mutation in the SCN1A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001852495 SCV002235205 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1203*) 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 been observed in individual(s) with epilepsy and/or neurodevelopmental disorder (PMID: 29655203). ClinVar contains an entry for this variant (Variation ID: 206803). For these reasons, this variant has been classified as Pathogenic.

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