Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuro |
RCV000585876 | SCV000693804 | likely pathogenic | Developmental and epileptic encephalopathy, 13 | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Undiagnosed Diseases Network, |
RCV000585876 | SCV000926975 | likely pathogenic | Developmental and epileptic encephalopathy, 13 | 2018-12-17 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002248807 | SCV002519063 | pathogenic | Cognitive impairment with or without cerebellar ataxia | 2022-05-04 | criteria provided, single submitter | clinical testing | |
3billion | RCV000585876 | SCV003841461 | pathogenic | Developmental and epileptic encephalopathy, 13 | 2023-02-23 | 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. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.92; 3Cnet: 0.95). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000495260). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least two similarly affected unrelated individuals (PMID: 31780880). A different missense change at the same codon (p.Ala874Ser) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000393169). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |