ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)

gnomAD frequency: 0.00005  dbSNP: rs777120925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864733 SCV002123018 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503405 SCV002778658 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2022-02-15 criteria provided, single submitter clinical testing

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