ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)

gnomAD frequency: 0.00003  dbSNP: rs771781694
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666614 SCV000790933 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-04-14 criteria provided, single submitter clinical testing
GeneDx RCV001731863 SCV001982610 pathogenic not provided 2021-10-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24700531, 25356239)
Invitae RCV001731863 SCV002233557 pathogenic not provided 2021-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg176*) 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 (rs771781694, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 25356239, 29572252). ClinVar contains an entry for this variant (Variation ID: 551532). 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.