Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002211340 | SCV002497872 | pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | SLX4: PVS1, PM2 |
Invitae | RCV003089121 | SCV003456238 | pathogenic | Fanconi anemia | 2022-09-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro1207Serfs*73) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1675611). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |