ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)

dbSNP: rs796053220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189281 SCV000242913 pathogenic not provided 2023-09-10 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 variant is associated with the following publications: (PMID: 32090326, 26029160, 31402610, 30171078, 24077912)
Center of Excellence for Medical Genomics, Chulalongkorn University RCV002281571 SCV002570051 pathogenic Seizures, benign familial infantile, 5 2002-09-08 no assertion criteria provided research
Channelopathy-Associated Epilepsy Research Center RCV003992220 SCV004809326 not provided Complex neurodevelopmental disorder no assertion provided literature only

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