ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) (rs9514067)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190581 SCV000245604 likely pathogenic Xeroderma pigmentosum, group G 2014-12-15 criteria provided, single submitter clinical testing The Arg1080X variant in ERCC5 has not been reported in the literature or in large population studies. This nonsense variant leads to a premature termination codon at position 1080, which is predicted to lead to either a truncated protein lacking the last 106 amino acids or absent protein. A mouse model with a homozygous deletion of the last 183 amino acids of the ERCC5 protein has normal life span and no particular growth abnormalities; however fibroblasts isolated from the mouse are moderately UV-light sensitive, suggesting that this deletion may impact protein function (Shiomi 2004). In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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.