ClinVar Miner

Submissions for variant NM_006384.4(CIB1):c.214C>T (p.Arg72Ter)

gnomAD frequency: 0.00004  dbSNP: rs143773090
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
Invitae RCV001869011 SCV002226394 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 599257). This variant is also known as c.214C>T (p.Arg72*). This premature translational stop signal has been observed in individual(s) with epidermodysplasia verruciformis (PMID: 30068544). This variant is present in population databases (rs143773090, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg112*) in the CIB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIB1 are known to be pathogenic (PMID: 30068544).
OMIM RCV000735848 SCV000863999 risk factor Epidermodysplasia verruciformis, susceptibility to, 3 2019-02-01 no assertion criteria provided literature only

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.