ClinVar Miner

Submissions for variant NC_000001.11:g.(?_241519581)_(241519732_?)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
Invitae RCV001032202 SCV001195509 pathogenic Fumarase deficiency 2019-02-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the FH 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 FH gene. This is expected to result in an absent or disrupted protein product. Deletions of exon 1 have been reported in individuals affected with hereditary leiomyomatosis and renal cell carcinoma (PMID: 18503824, 28196407). Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). 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.