ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln)

gnomAD frequency: 0.00001  dbSNP: rs941190653
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238068 SCV002009520 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772104 SCV004633016 likely pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2023-02-21 criteria provided, single submitter clinical testing This variant disrupts the p.Arg420 amino acid residue in SYN1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 420 of the SYN1 protein (p.Arg420Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SYN1-related conditions (PMID: 31969655). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1319815). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Studies have shown that this missense change alters SYN1 gene expression (PMID: 31969655). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV001762014 SCV002583586 pathogenic Intellectual disability, X-linked 50 2022-10-14 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.