Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494436 | SCV000581895 | likely pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the SCN1A gene. The T1909I variant has been previously reported as T1899I (using alternative nomenclature) in an individual with severe myoclonic epilepsy of infancy; parental testing was not reported (Ohmori et al., 2002). Functional studies have demonstrated that T1909I results in a abnormal channel function (Ohmori et al., 2006). The T1909I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T1909I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a conserved position predicted to be within the C-terminal cytoplasmic domain. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Groupe Hospitalier Pitie Salpetriere, |
RCV000059549 | SCV000586771 | pathogenic | Severe myoclonic epilepsy in infancy | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability; severe and pharmacoresistant epilepsy (starting with febrile convulsions); pyramidal syndrome; tremor and myoclonus; dysmorphism; scoliosis |
Invitae | RCV000705871 | SCV000834888 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000494436 | SCV001245858 | pathogenic | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Uni |
RCV000059549 | SCV000091081 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |