Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002725517 | SCV002993427 | pathogenic | Fanconi anemia | 2022-05-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1177*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. For these reasons, this variant has been classified as Pathogenic. |