ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs)

dbSNP: rs1560033414
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695619 SCV000824130 pathogenic Fanconi-Bickel syndrome 2018-08-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292). This variant has been observed to be de novo in an individual affected with autosomal recessive Fanconi-Bickel syndrome (PMID: 25919556). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr324Leufs*69) in the SLC2A2 gene. It is expected to result in an absent or disrupted protein product.

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.