ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.497-2A>G

dbSNP: rs1318756243
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001054596 SCV001218939 pathogenic Fanconi-Bickel syndrome 2022-10-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Fanconi-Bickel Syndrome (PMID: 22865906). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 850431). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change affects an acceptor splice site in intron 4 of the SLC2A2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292).
GeneDx RCV002305564 SCV002599997 pathogenic not provided 2022-04-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22865906)
Fulgent Genetics, Fulgent Genetics RCV005029624 SCV005661879 likely pathogenic Type 2 diabetes mellitus; Fanconi-Bickel syndrome 2024-02-14 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.