Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003817876 | SCV004607330 | pathogenic | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2024-03-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg468Aspfs*25) in the ERCC4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC4 are known to be pathogenic (PMID: 9580660). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV005014980 | SCV005645253 | likely pathogenic | Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q | 2024-04-24 | criteria provided, single submitter | clinical testing |