ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met)

gnomAD frequency: 0.00006  dbSNP: rs149366157
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
Eurofins Ntd Llc (ga) RCV000591913 SCV000708057 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001854089 SCV002136300 uncertain significance Cholestanol storage disease 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 182 of the CYP27A1 protein (p.Ile182Met). This variant is present in population databases (rs149366157, gnomAD 0.006%). 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: 501615). 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.
Ambry Genetics RCV002532607 SCV003649986 uncertain significance Inborn genetic diseases 2021-11-19 criteria provided, single submitter clinical testing The c.546T>G (p.I182M) alteration is located in exon 3 (coding exon 3) of the CYP27A1 gene. This alteration results from a T to G substitution at nucleotide position 546, causing the isoleucine (I) at amino acid position 182 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.