Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045963 | SCV001209840 | pathogenic | Fanconi anemia | 2019-12-03 | criteria provided, single submitter | clinical testing | Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln320*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002379526 | SCV002695653 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-07-31 | criteria provided, single submitter | clinical testing | The p.Q320* pathogenic mutation (also known as c.958C>T), located in coding exon 9 of the FANCC gene, results from a C to T substitution at nucleotide position 958. This changes the amino acid from a glutamine to a stop codon within coding exon 9. 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 | RCV003462534 | SCV004196698 | likely pathogenic | Fanconi anemia complementation group C | 2022-04-25 | criteria provided, single submitter | clinical testing |