Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003460204 | SCV004196758 | likely pathogenic | Fanconi anemia complementation group D2 | 2023-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003779028 | SCV004612112 | pathogenic | Fanconi anemia | 2023-09-08 | criteria provided, single submitter | clinical testing | 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 present in population databases (rs755464133, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln626*) 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). |