Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693631 | SCV000821506 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1823 of the SCN1A protein (p.Met1823Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SCN1A-related conditions (PMID: 24679980, 31031587). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 572287). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001200252 | SCV001371157 | likely pathogenic | not provided | 2020-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001253286 | SCV001428932 | pathogenic | Severe myoclonic epilepsy in infancy | 2017-11-03 | criteria provided, single submitter | clinical testing |