ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.265dup (p.Ile89fs)

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
Ambry Genetics RCV002453122 SCV002739897 pathogenic Hereditary cancer-predisposing syndrome 2021-03-09 criteria provided, single submitter clinical testing The c.265dupA pathogenic mutation, located in coding exon 3 of the FANCC gene, results from a duplication of A at nucleotide position 265, causing a translational frameshift with a predicted alternate stop codon (p.I89Nfs*11). This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003523136 SCV004337973 pathogenic Fanconi anemia 2023-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1794430). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs751757203, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile89Asnfs*11) 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).
Baylor Genetics RCV004571154 SCV005057617 likely pathogenic Fanconi anemia complementation group C 2023-12-01 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.