ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)

gnomAD frequency: 0.00001  dbSNP: rs751448793
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668815 SCV000793479 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV001057555 SCV001222053 pathogenic not provided 2023-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg857*) 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 (rs751448793, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Cockayne syndrome or cerebrooculofacioskeletal syndrome (PMID: 18628313, 19894250). ClinVar contains an entry for this variant (Variation ID: 553383). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.