ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.108_109dup (p.His37fs)

gnomAD frequency: 0.00001  dbSNP: rs1057517131
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
Counsyl RCV000409107 SCV000486796 likely pathogenic Fanconi anemia complementation group C 2016-08-09 criteria provided, single submitter clinical testing
Invitae RCV001850957 SCV002244476 pathogenic Fanconi anemia 2021-02-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 371258). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His37Leufs*10) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). 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.