Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468127 | SCV004196727 | likely pathogenic | Fanconi anemia complementation group D2 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003636022 | SCV004478385 | pathogenic | Fanconi anemia | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1364Trpfs*4) 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 not present in population databases (gnomAD no frequency). 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. |