Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001817844 | SCV002069316 | pathogenic | not provided | 2019-01-03 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the ERCC4 gene demonstrated a pathogenic sequence change, c.579G>A, which results in the creation of a premature stop codon at amino acid position 193, p.Trp193*. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated ERCC4 protein with potentially abnormal function. |
Invitae | RCV001869789 | SCV002241309 | pathogenic | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2022-11-08 | 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: 1338473). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs753325454, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Trp193*) 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). |