Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824131 | SCV000965016 | pathogenic | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 120325). This premature translational stop signal has been observed in individual(s) with WWOX-related conditions (PMID: 24456803). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs587777248, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg54*) 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). |
Pathology and Clinical Laboratory Medicine, |
RCV000106406 | SCV002073819 | pathogenic | Developmental and epileptic encephalopathy, 28 | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000106406 | SCV000143899 | pathogenic | Developmental and epileptic encephalopathy, 28 | 2014-01-23 | no assertion criteria provided | literature only |