ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) (rs121918783)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180879 SCV000221848 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000180879 SCV000996091 pathogenic Severe myoclonic epilepsy in infancy 2017-12-14 criteria provided, single submitter clinical testing This variant has been previously reported as disease causing in a patient with severe myoclonic epilepsy in infancy and in the patient's sibling with generalized epilepsy with febrile seizures (PMID: 12919402) and in an individual with Dravet syndrome (PMID: 26096185). The c.5555T>C (p.Met1852Thr) variant is absent from population databases, thus is presumed to be rare. Functional studies show that this change is a loss of function variant, specifically affecting cellular trafficking (PMID: 17928445). In silico algorithms predict this change to be deleterious. Based on the overall evidence the c.5555T>C (p.Met1852Thr) variant is classified as pathogenic.
UniProtKB/Swiss-Prot RCV000059544 SCV000091076 not provided Generalized epilepsy with febrile seizures plus, type 1 no assertion provided not provided

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