ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2546A>G (p.Tyr849Cys)

dbSNP: rs1057524877
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002522729 SCV003443974 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 888 of the SYNJ1 protein (p.Tyr888Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SYNJ1-related conditions (PMID: 27435091). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 393357). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects SYNJ1 function (PMID: 27435091). 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.
OMIM RCV000445434 SCV000536943 pathogenic Developmental and epileptic encephalopathy, 53 2020-11-11 no assertion criteria provided literature only

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.