ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)

gnomAD frequency: 0.00004  dbSNP: rs1057942
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733225 SCV000861263 likely pathogenic not provided 2018-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000733225 SCV001247922 likely pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing GBA1: PM2, PM3, PM5
Fulgent Genetics, Fulgent Genetics RCV002499368 SCV002813242 likely pathogenic Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset 2021-09-26 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003336163 SCV004045946 pathogenic Parkinson disease, late-onset 2023-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000733225 SCV005324976 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing Reported as heterozygous in multiple individuals with late onset Parkinson disease and early onset Parkinson disease and also seen in controls (PMID: 33281709, 18541817, 21779299, 34779914, 35861376, 37658046, 36872856, 37312046, 32613234); Reported previously in a patient with progressive supranuclear palsy and seen in one control; no further clinical information was provided (PMID: 35842134); In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 18541817, 33583590, 32618053, 34134921, 32165122, 37312046, 34779914, 35861376, 36872856, 37658046, 21779299, 36683633, 33281709, 33383316, 36637080, 34867278, 35842134, 32613234)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002499368 SCV005416968 likely pathogenic Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset criteria provided, single submitter clinical testing PM2_Supporting+PP3+PM3+PP4_Moderate

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.