ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) (rs1057516291)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462409 SCV000549952 pathogenic Fanconi anemia 2019-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp113*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 370175). Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000574200 SCV000673349 pathogenic Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing The p.W113* pathogenic mutation (also known as c.339G>A), located in coding exon 3 of the FANCC gene, results from a G to A substitution at nucleotide position 339. This changes the amino acid from a tryptophan to a stop codon within coding exon 3. 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.
Baylor Genetics RCV000412313 SCV001163258 pathogenic Fanconi anemia, complementation group C criteria provided, single submitter clinical testing
Counsyl RCV000412313 SCV000485422 likely pathogenic Fanconi anemia, complementation group C 2015-12-08 no assertion criteria provided 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.