Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032710 | SCV001196017 | pathogenic | Fanconi anemia | 2019-05-13 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 11-14 of the FANCA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletions of exons 11-14 have been reported in individuals affected with FANCA-related disease (PMID: 10094191, 24584348). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic. |