ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.315C>A (p.His105Gln)

dbSNP: rs753981913
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972967 SCV002252434 uncertain significance Cholestanol storage disease 2021-07-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 105 of the CYP27A1 protein (p.His105Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. 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 not 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.

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.