ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) (rs1057518671)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000578114 SCV000678244 uncertain significance Severe myoclonic epilepsy in infancy 2017-11-07 no assertion criteria provided clinical testing The observed variant c.5351T>A (p.V1784D) has not been reported in The 1000 Genomes or ExAC databases. Also, it has not been reported in any literature. The in silico prediction of the variant is found to be damaging by SIFT, LRT, MutationTaster2, PolyPhen-2, Mutation Assessor and FATHMM.

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