ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)

gnomAD frequency: 0.00003  dbSNP: rs371243629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000593278 SCV000703160 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV000636263 SCV000757702 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764281 SCV000895300 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000593278 SCV001792583 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the C-terminal cytoplasmic domain.

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