Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001816312 | SCV002064067 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869645 | SCV002183572 | uncertain significance | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2022-04-30 | criteria provided, single submitter | clinical testing | This sequence change affects codon 334 of the SYNJ1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SYNJ1 protein. This variant is present in population databases (no rsID available, gnomAD 0.001%). 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: 1335468). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |