Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409673 | SCV000486911 | likely pathogenic | Fanconi anemia complementation group C | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003635912 | SCV004485142 | pathogenic | Fanconi anemia | 2022-12-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile214Asnfs*8) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371351). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency). |