ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) (rs794726742)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180923 SCV000221902 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000578911 SCV000680691 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The W738X variant in the SCN1A gene has not been published as a pathogenic variant, nor has itbeen reported as a benign variant to our knowledge. A different nucleotide substitution at this position, resulting in a W738L missense variant, has been previously reported in a patient with Dravet syndrome; however, no other information was provided (Xu et al., 2014). The W738X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the W738X variant is not observed in large population cohorts (Lek et al., 2016). Furthermore, the W738X variant has been identified as a de novo change in an individual with epilepsy previously tested at GeneDx. Therefore, we interpret W738X as a pathogenic variant, and its presence is consistent with the diagnosis of an SCN1A-related disorder in this individual.

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