ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly)

gnomAD frequency: 0.00014  dbSNP: rs147931121
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000699027 SCV000827721 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1086 of the SYNJ1 protein (p.Arg1086Gly). This variant is present in population databases (rs147931121, gnomAD 0.01%). 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: 576516). 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 C0"). 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.
Ambry Genetics RCV002534366 SCV003713303 uncertain significance Inborn genetic diseases 2021-12-09 criteria provided, single submitter clinical testing The c.3256C>G (p.R1086G) alteration is located in exon 24 (coding exon 24) of the SYNJ1 gene. This alteration results from a C to G substitution at nucleotide position 3256, causing the arginine (R) at amino acid position 1086 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.