Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000255527 | SCV000111444 | pathogenic | not provided | 2013-04-03 | criteria provided, single submitter | clinical testing | |
Center for Bioinformatics, |
RCV000174048 | SCV000221912 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
Athena Diagnostics Inc | RCV000174048 | SCV000255814 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-04-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000255527 | SCV000321938 | pathogenic | not provided | 2019-05-28 | criteria provided, single submitter | clinical testing | 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26096185, 25525159, 16458823, 18930999, 17054684, 25459968, 18804930, 24422737, 22409937, 27236449, 27810515, 31009440, 32090326, 33278787) |
Fulgent Genetics, |
RCV000515441 | SCV000611315 | pathogenic | Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557283 | SCV000633816 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg613*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 1893099, 16458823, 17054684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 93635). For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Genomics, |
RCV000174048 | SCV004046874 | pathogenic | Severe myoclonic epilepsy in infancy | 2023-10-23 | criteria provided, single submitter | clinical testing | This heterozygous non-sense variant [PVS1] is absent in gnomAD database [PM2]. Insilico prediction [MutationTaster] predicts deleterious nature of this variant. A clinvar entry for this variant is available. A clinvar entry for this variant is available [Variation ID: 93635] with “Pathogenic” interpretation by multiple submitters [PP5]. Parental segregation confirms the “de-novo” origin of the variant. Based on the clinical correlation and available evidence, this variant is classified as "Pathogenic" |