Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000697507 | SCV000826122 | pathogenic | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2018-05-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SYNJ1-related disease. This sequence change creates a premature translational stop signal (p.Trp8*) in the SYNJ1 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. Loss-of-function variants in SYNJ1 are known to be pathogenic (PMID: 25316601, 27435091). For these reasons, this variant has been classified as Pathogenic. |