Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001960679 | SCV002231927 | pathogenic | Fanconi anemia | 2023-01-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454486). This variant is also known as p.Ala936fs. This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 29915322). This variant is present in population databases (rs767631456, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Ala938Thrfs*7) 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). |