Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001004657 | SCV001426483 | pathogenic | Developmental and epileptic encephalopathy, 84 | criteria provided, single submitter | clinical testing | ||
Revvity Omics, |
RCV001004657 | SCV002021590 | likely pathogenic | Developmental and epileptic encephalopathy, 84 | 2021-02-05 | criteria provided, single submitter | clinical testing | |
3billion | RCV001004657 | SCV002058586 | pathogenic | Developmental and epileptic encephalopathy, 84 | 2022-01-03 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (PMID_32001716, ClinVar ID: VCV000592087, PMID:32175296, PS1_S). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 32001716, PM3_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.634, PP3_P). A missense variant is a common mechanism associated with Developmental and epileptic encephalopathy 84 (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000046, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Biochemical Molecular Genetic Laboratory, |
RCV000723274 | SCV000854660 | pathogenic | Epileptic encephalopathy | 2018-01-10 | no assertion criteria provided | clinical testing | |
Section for Clinical Neurogenetics, |
RCV000723274 | SCV001156119 | likely pathogenic | Epileptic encephalopathy | 2019-10-01 | no assertion criteria provided | research | |
OMIM | RCV001004657 | SCV001164105 | pathogenic | Developmental and epileptic encephalopathy, 84 | 2020-10-07 | no assertion criteria provided | literature only |