ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.394_398del (p.Leu132fs)

dbSNP: rs774542633
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 RCV000670506 SCV000795365 pathogenic Cockayne syndrome type 1 2017-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000809115 SCV000949255 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu132Asnfs*6) in the ERCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 29572252). This variant is present in population databases (rs774542633, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Cockayne syndrome (PMID: 26173784, 29057985). ClinVar contains an entry for this variant (Variation ID: 554811). 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.