ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)

dbSNP: rs996440530
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001043799 SCV001207563 pathogenic Glucose-6-phosphate transport defect 2025-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr225*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glycogen storage disease 1b (PMID: 10923042, 11949931). This variant is also known as 844C>A. ClinVar contains an entry for this variant (Variation ID: 841551). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001043799 SCV002079560 pathogenic Glucose-6-phosphate transport defect 2021-09-08 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.