ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)

dbSNP: rs794726739
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180848 SCV000221813 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000189004 SCV000242635 pathogenic not provided 2014-03-13 criteria provided, single submitter clinical testing p.Arg1892Stop (CGA>TGA): c.5674 C>T in exon 26 of the SCN1A gene (NM_001165963.1) The R1892X nonsense mutation in the SCN1A gene has been reported in multiple unrelated patients with Dravet syndrome and other SCN1A-related disorders (Sugawara et al., 2002). This mutation is predicted to cause loss of normal protein function through protein truncation. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000805798 SCV000945767 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1892*) in the SCN1A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 118 amino acid(s) of the SCN1A protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SCN1A protein in which other variant(s) (p.Arg1924Leufs*8) have been determined to be pathogenic (PMID: 27465585). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 189896). This variant is also known as c.5641C>T: Arg1881X. This premature translational stop signal has been observed in individual(s) with clinical features of SMEI and severe myoclonic epilepsy of infancy (SMEI) (PMID: 11940708, 17054684, 19563349). In at least one individual the variant was observed to be de novo.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995637 SCV001149920 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2019-09-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000189004 SCV001245861 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505227 SCV002811587 pathogenic Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2021-08-07 criteria provided, single submitter clinical testing
Center of Excellence for Medical Genomics, Chulalongkorn University RCV002281566 SCV002570037 pathogenic Migraine, familial hemiplegic, 3 2002-09-08 no assertion criteria provided research

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