ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) (rs796053004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622874 SCV000741558 pathogenic Inborn genetic diseases 2016-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Athena Diagnostics Inc RCV000201135 SCV000255827 pathogenic Severe myoclonic epilepsy in infancy 2014-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000188938 SCV000242569 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing The R1329X nonsense variant in the SCN1A gene has been reported previously in association with Dravet syndrome (Depienne et al., 209; Selmer et al., 2009). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1329X variant is not observed in large population cohorts (Lek et al., 2016). The R1329X variant is considered a pathogenic variant, and its presence is consistent with an SCN1A-related disorder

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