ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.476A>T (p.Gln159Leu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493014 SCV004235222 uncertain significance Hemolytic anemia due to glutathione reductase deficiency 2023-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364883 SCV004880883 uncertain significance not specified 2023-11-29 criteria provided, single submitter clinical testing The c.476A>T (p.Q159L) alteration is located in exon 4 (coding exon 4) of the GSR gene. This alteration results from a A to T substitution at nucleotide position 476, causing the glutamine (Q) at amino acid position 159 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790574 SCV005409430 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing BP4, PM2_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.