Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000804363 | SCV000944269 | pathogenic | Fanconi anemia | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe169Leufs*25) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 649429). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002336630 | SCV002642920 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-11-19 | criteria provided, single submitter | clinical testing | The c.507delT pathogenic mutation, located in coding exon 5 of the FANCC gene, results from a deletion of one nucleotide at nucleotide position 507, causing a translational frameshift with a predicted alternate stop codon (p.F169Lfs*25). 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 | RCV003467402 | SCV004196664 | likely pathogenic | Fanconi anemia complementation group C | 2023-07-24 | criteria provided, single submitter | clinical testing |