Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268114 | SCV001446771 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001780223 | SCV002026326 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2017-09-01 | criteria provided, single submitter | research | |
Genome- |
RCV001780223 | SCV002056735 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880161 | SCV002228779 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 C55"). ClinVar contains an entry for this variant (Variation ID: 986935). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 29050398; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2271 of the SPTAN1 protein (p.Glu2271Lys). |
OMIM | RCV001780223 | SCV004045979 | pathogenic | Developmental and epileptic encephalopathy, 5 | 2023-10-18 | no assertion criteria provided | literature only |