Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188874 | SCV000242504 | uncertain significance | not provided | 2020-01-15 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Substitution is predicted to be in the cytoplasmic loop between the first and second homologous domains; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31780880) |
Neuro |
RCV000585879 | SCV000693813 | uncertain significance | Severe myoclonic epilepsy in infancy | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857646 | SCV002133671 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399702 | SCV002707905 | uncertain significance | Inborn genetic diseases | 2017-10-20 | criteria provided, single submitter | clinical testing | The p.R535H variant (also known as c.1604G>A), located in coding exon 10 of the SCN1A gene, results from a G to A substitution at nucleotide position 1604. The arginine at codon 535 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |