Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502392 | SCV000594581 | pathogenic | Cockayne syndrome B | 2016-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001246953 | SCV001420348 | pathogenic | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg975*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772801089, ExAC 0.005%). This variant has been observed in an individual affected with Cockayne syndrome (PMID: 29572252). ClinVar contains an entry for this variant (Variation ID: 435082). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic. |