ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1534-1G>T

dbSNP: rs1364238660
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 RCV000672742 SCV000797878 likely pathogenic Fanconi anemia complementation group C 2018-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388182 SCV002703893 likely pathogenic Hereditary cancer-predisposing syndrome 2021-02-22 criteria provided, single submitter clinical testing The c.1534-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 14 of the FANCC gene. This alteration occurs at the 3' terminus of the FANCC gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 8% of the protein. The exact functional effect of this alteration is unknown; however, the impacted region is critical for protein function (Ambry internal data). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. Based on the majority of available evidence to date, this variant is likely to be 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.