ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1225-34C>A

gnomAD frequency: 0.94932  dbSNP: rs3115534
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
PreventionGenetics, part of Exact Sciences RCV000249932 SCV000305638 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587144 SCV000697576 benign not provided 2017-06-20 criteria provided, single submitter clinical testing Variant summary: The GBA c.1225-34C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, while ESE finder predicts the introduction of a novel SRp55 ESE site at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC at a frequency of 0.9842258 (118924/120830 control chromosomes [58635 homozygotes]), which is approximately 197 times the estimated maximal expected allele frequency of a pathogenic GBA variant (0.005), indicating that this variant is the major allele in the general population and strongly suggesting this variant is a benign polymorphism. In addition, one clinical diagnostic laboratory has classified this variant as benign. Taken together, this variant is classified as benign.
Genome-Nilou Lab RCV001532835 SCV001748587 benign Gaucher disease perinatal lethal 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532836 SCV001748588 benign Gaucher disease type I 2021-07-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000249932 SCV005091599 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 92. Only high quality variants are reported.
Natera, Inc. RCV001276017 SCV001461740 benign Gaucher disease 2020-09-16 no assertion criteria provided clinical testing

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.