ClinVar Miner

Submissions for variant NM_001498.4(GCLC):c.514T>A (p.Ser172Thr)

dbSNP: rs1554152412
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
GeneDx RCV000657866 SCV000779626 likely pathogenic not provided 2021-10-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30919572, 28571779)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989573 SCV004808068 uncertain significance Gamma-glutamylcysteine synthetase deficiency 2024-03-29 criteria provided, single submitter 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.