ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)

gnomAD frequency: 0.00001  dbSNP: rs539925873
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
Invitae RCV001429233 SCV001631947 likely benign Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555522 SCV003691522 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.91C>T (p.L31F) alteration is located in exon 1 (coding exon 1) of the GBE1 gene. This alteration results from a C to T substitution at nucleotide position 91, causing the leucine (L) at amino acid position 31 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.