ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) (rs184524479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188874 SCV000242504 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Substitution is predicted to be in the cytoplasmic loop between the first and second homologous domains; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31780880)
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000585879 SCV000693813 uncertain significance Severe myoclonic epilepsy in infancy 2018-01-01 criteria provided, single submitter clinical testing

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