ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) (rs727504136)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720345 SCV000851222 pathogenic History of neurodevelopmental disorder 2016-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Athena Diagnostics Inc RCV000153888 SCV000255825 pathogenic Severe myoclonic epilepsy in infancy 2015-02-13 criteria provided, single submitter clinical testing
Center for Bioinformatics, Peking University RCV000153888 SCV000221834 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188925 SCV000203500 pathogenic not provided 2014-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000188925 SCV000242555 pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing The R1245X nonsense variant in the SCN1A gene has been reported multiple times previously in association with SCN1A-related disorders (Nabbout et al., 2003; SCN1A Variant Database). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of R1245X is consistent with the diagnosis of a SCN1A-related disorder in this individual.

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