ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr)

dbSNP: rs2105402379
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003236901 SCV003935734 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This substitution is predicted to be within the transmembrane segment S5 of the fourth homologous domain; This variant is associated with the following publications: (PMID: 35359639, 35431799)
Neurology Department, Shenzhen Children's Hospital RCV001847340 SCV002099455 likely pathogenic Severe myoclonic epilepsy in infancy 2022-02-16 no assertion criteria provided clinical testing

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