ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)

dbSNP: rs1178393503
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674414 SCV000799747 likely pathogenic Cholestanol storage disease 2018-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674414 SCV001381317 pathogenic Cholestanol storage disease 2024-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu394Alafs*18) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 11181744). This variant is also known as Ex6Δ2bp. ClinVar contains an entry for this variant (Variation ID: 558186). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000674414 SCV004192665 pathogenic Cholestanol storage disease 2023-09-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674414 SCV005647750 likely pathogenic Cholestanol storage disease 2024-03-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000674414 SCV002078801 pathogenic Cholestanol storage disease 2020-06-30 no assertion criteria provided clinical testing

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.