Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189555 | SCV000243198 | pathogenic | not provided | 2023-06-15 | criteria provided, single submitter | clinical testing | In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27864847, 34590414) |
Neurogenetics Laboratory - |
RCV000416957 | SCV000494543 | likely pathogenic | Focal epilepsy | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Genetics Laboratory, |
RCV001420284 | SCV001622704 | pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PP5_strong;PM1_moderate;PM2_supporting;PM6_moderate;PP3_supporting;BP3_supporting |
Institute of Human Genetics, |
RCV001781558 | SCV002026336 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2017-09-01 | criteria provided, single submitter | research | |
Invitae | RCV001852513 | SCV002267664 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This variant, c.6908_6916del, results in the deletion of 3 amino acid(s) of the SPTAN1 protein (p.Asp2303_Leu2305del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with clinical features of SPTAN1-related conditions (PMID: 27864847, 34590414; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 207380). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000189555 | SCV004238705 | likely pathogenic | not provided | 2023-04-06 | criteria provided, single submitter | clinical testing | |
Developmental and Behavioral Pediatrics, |
RCV001781558 | SCV002576307 | pathogenic | Developmental and epileptic encephalopathy, 5 | no assertion criteria provided | provider interpretation | ||
OMIM | RCV003335186 | SCV004045981 | pathogenic | Developmental delay with or without epilepsy | 2023-10-18 | no assertion criteria provided | literature only |