Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003461551 | SCV004197263 | likely pathogenic | Fanconi anemia complementation group L | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003636035 | SCV004481822 | pathogenic | Fanconi anemia | 2023-05-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp274*) in the FANCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCL-related conditions. This variant is not present in population databases (gnomAD no frequency). |