ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His)

gnomAD frequency: 0.00016  dbSNP: rs370868184
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712498 SCV000232577 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712498 SCV000843000 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001826922 SCV003447774 uncertain significance Cholestanol storage disease 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 448 of the CYP27A1 protein (p.Arg448His). This variant is present in population databases (rs370868184, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 198750). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CYP27A1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001826922 SCV002078808 uncertain significance Cholestanol storage disease 2020-01-31 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.