ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) (rs533885672)

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
Counsyl RCV000670341 SCV000795181 likely pathogenic Cholestanol storage disease 2017-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000670341 SCV000893578 likely pathogenic Cholestanol storage disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000670341 SCV000959073 pathogenic Cholestanol storage disease 2020-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln358*) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs533885672, ExAC 0.05%). This variant has been observed in an individual affected with clinical features of cerebrotendinous xanthomatosis (PMID: 29242796). ClinVar contains an entry for this variant (Variation ID: 554665). Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). 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.