Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664845 | SCV000788864 | likely pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530637 | SCV003213528 | pathogenic | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg261Profs*69) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 550175). For these reasons, this variant has been classified as Pathogenic. |