ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) (rs139300715)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188961 SCV000242592 pathogenic not provided 2016-07-27 criteria provided, single submitter clinical testing The Ser1516Stop variant in the SCN1A gene has been previously reported as a de novo variant in association with severe myoclonic epilepsy in infancy (SMEI) and Dravet syndrome (Sugawara et al., 2002; Mancardi et al., 2006; Harkin et al., 2007; Depienne et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000416525 SCV000494451 pathogenic Severe myoclonic epilepsy in infancy 2016-07-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188961 SCV000615037 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000416525 SCV000807531 pathogenic Severe myoclonic epilepsy in infancy 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 10-month-old female with afebrile seizures (onset 4m), IUGR, neonatal jaundice and neaonatal hypothermia
Fulgent Genetics,Fulgent Genetics RCV000763458 SCV000894235 pathogenic Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2018-10-31 criteria provided, single submitter clinical testing

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