Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382931 | SCV001581890 | pathogenic | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala1186Serfs*9) in the SYNJ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNJ1 are known to be pathogenic (PMID: 25316601, 27435091). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070684). For these reasons, this variant has been classified as Pathogenic. |