ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)

gnomAD frequency: 0.00110  dbSNP: rs141917910
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 RCV001085880 SCV000638849 likely benign GM3 synthase deficiency 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000713527 SCV000703526 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713527 SCV000844149 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905386 SCV004725401 likely benign ST3GAL5-related disorder 2023-06-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.