Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188961 | SCV000242592 | pathogenic | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | 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; Doccini et al., 2015); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26544041, 17347258, 25525159, 24168886, 26169758, 11940708, 18930999, 28837158, 30525188, 17054684, 31864146, 32090326, 33108073) |
Center of Genomic medicine, |
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, |
RCV000763458 | SCV000894235 | pathogenic | 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 | |
Invitae | RCV001050764 | SCV001214886 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-05-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 206837). This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 11940708, 19589774, 26544041). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1516*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). |
Blueprint Genetics | RCV000416525 | SCV001426156 | pathogenic | Severe myoclonic epilepsy in infancy | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003448284 | SCV004176500 | pathogenic | Generalized epilepsy with febrile seizures plus, type 2 | 2023-02-14 | criteria provided, single submitter | clinical testing | The stop gained c.4547C>A(p.Ser1516Ter) variant in SCN1A gene has been reported previously in heterozygous state in multiple patients affected with epilepsy (Zhang Y, et. al., 2015). The c.4547C>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes databases. This variant has been reported to the ClinVar database as Pathogenic (multiple submission). The nucleotide change c.4547C>A in SCN1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV000188961 | SCV001929587 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000188961 | SCV001958735 | pathogenic | not provided | no assertion criteria provided | clinical testing |