Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003460219 | SCV004196787 | likely pathogenic | Fanconi anemia complementation group D2 | 2021-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003636024 | SCV004558659 | pathogenic | Fanconi anemia | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln718*) 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). This variant is present in population databases (rs774707377, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. For these reasons, this variant has been classified as Pathogenic. |