ClinVar Miner

Submissions for variant NC_000009.12:g.(?_94639121)_(94639330_?)del

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 RCV001032065 SCV001195372 pathogenic Fructose-biphosphatase deficiency 2019-07-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the FBP1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the FBP1 gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in several families affected with fructose-1,6-bisphosphatase deficiency (PMID: 11286391). Loss-of-function variants in FBP1 are known to be pathogenic (PMID: 9382095, 19259699, 27101822). For these reasons, this variant has been classified as Pathogenic.

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.