Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Individualized Medicine, |
RCV000190643 | SCV000245686 | likely pathogenic | Fanconi anemia, complementation group I | 2014-01-01 | criteria provided, single submitter | research | |
Invitae | RCV000630839 | SCV000751808 | pathogenic | Fanconi anemia | 2019-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys808*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs375656231, ExAC 0.003%). This variant has been reported in individuals affected with breast or prostate cancer (PMID: 26296701, 29439820). ClinVar contains an entry for this variant (Variation ID: 208639). Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). For these reasons, this variant has been classified as Pathogenic. |
Daryl Scott Lab, |
RCV000190643 | SCV001448633 | pathogenic | Fanconi anemia, complementation group I | 2020-11-11 | criteria provided, single submitter | clinical testing |