Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV000172909 | SCV002521823 | pathogenic | Developmental and epileptic encephalopathy, 13 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 25725044). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.90; 3Cnet: 0.38). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SCN8A related disorder (ClinVar ID: VCV000192317 / PMID: 25725044). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25725044). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000172909 | SCV000223891 | pathogenic | Developmental and epileptic encephalopathy, 13 | 2015-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000172909 | SCV000298197 | not provided | Developmental and epileptic encephalopathy, 13 | no assertion provided | literature only | ||
NIHR Bioresource Rare Diseases, |
RCV001003602 | SCV001161996 | pathogenic | Global developmental delay; Seizure | no assertion criteria provided | research |