ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.655C>T (p.Arg219Trp)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002904568 SCV003258927 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-02 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Arg258 amino acid residue in SYNJ1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23804563, 23804577, 24816432). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This missense change has been observed in individual(s) with clinical features of SYNJ1-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 258 of the SYNJ1 protein (p.Arg258Trp).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.