Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003460220 | SCV004196788 | likely pathogenic | Fanconi anemia complementation group D2 | 2021-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003636025 | SCV004422925 | pathogenic | Fanconi anemia | 2023-01-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro526Leufs*33) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This variant is not present in population databases (gnomAD no frequency). |