Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723573 | SCV000111467 | uncertain significance | not provided | 2013-09-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723573 | SCV000242598 | uncertain significance | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution is predicted to be within the intracellular loop between the third and fourth homologous domain; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001854405 | SCV002147762 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1528 of the SCN1A protein (p.Asn1528Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant SCN1A-related conditions (PMID: 28012175; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 93653). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |