ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)

gnomAD frequency: 0.00002  dbSNP: rs772801089
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
Genetic Services Laboratory, University of Chicago RCV000502392 SCV000594581 pathogenic Cockayne syndrome type 2 2016-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246953 SCV001420348 pathogenic not provided 2024-03-12 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. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (rs772801089, gnomAD 0.004%). This premature translational stop signal has been observed in individuals with Cockayne syndrome (PMID: 28440418, 29572252; Invitae). ClinVar contains an entry for this variant (Variation ID: 435082). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001246953 SCV004022831 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing Reported in a individual with Cockayne syndrome who also harbored another variant in the ERCC6 gene in published literature (PMID: 29572252); 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28440418, 29572252)

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.