ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)

dbSNP: rs1281090187
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 RCV000665464 SCV000789594 likely pathogenic Xeroderma pigmentosum, group C 2017-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530657 SCV003285899 pathogenic not provided 2023-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln773*) in the XPC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XPC are known to be pathogenic (PMID: 23173980, 25256075). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550662). This variant has not been reported in the literature in individuals affected with XPC-related conditions.

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.