Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198240 | SCV001369112 | likely pathogenic | Developmental and epileptic encephalopathy, 28 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |
Invitae | RCV001861445 | SCV002161876 | pathogenic | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2021-09-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with epileptic encephalopathy (PMID: 27848944, 31623504). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 373950). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu306Aspfs*21) in the WWOX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). |
Centre for Mendelian Genomics, |
RCV000415161 | SCV000492596 | likely pathogenic | Epileptic encephalopathy | 2016-04-18 | no assertion criteria provided | clinical testing |