ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro)

gnomAD frequency: 0.00011  dbSNP: rs61752559
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704245 SCV000833186 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1072 of the SYNJ1 protein (p.Ser1072Pro). This variant is present in population databases (rs61752559, 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: 580644). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SYNJ1 protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV001333169 SCV001525681 uncertain significance Developmental and epileptic encephalopathy, 53 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003223673 SCV003919610 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003303185 SCV004003524 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.3214T>C (p.S1072P) alteration is located in exon 24 (coding exon 24) of the SYNJ1 gene. This alteration results from a T to C substitution at nucleotide position 3214, causing the serine (S) at amino acid position 1072 to be replaced by a proline (P). 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.