ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) (rs41272687)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179342 SCV000231576 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179342 SCV000305516 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000179342 SCV000518722 benign not specified 2016-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179342 SCV000538767 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP(all): 241/13006=1.8%
Athena Diagnostics Inc RCV000179342 SCV000613049 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Mendelics RCV000056071 SCV001136217 likely benign Cholestanol storage disease 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000056071 SCV001298202 uncertain significance Cholestanol storage disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Institute Rare Disease Group, Broad Institute RCV000056071 SCV001435237 benign Cholestanol storage disease criteria provided, single submitter research The heterozygous p.Pro384Leu variant in CYP27A1 has been identified in 4 individuals with cerebrotendinous xanthomatosis in cis with a frameshift mutation upstream of the variant (PMID: 10775536), and has also been identified in >3% of South Asian chromosomes and 37 total homozygotes by ExAC ( In summary, this variant meets criteria to be classified as benign for cerebrotendinous xanthomatosis.
Invitae RCV000056071 SCV001732808 benign Cholestanol storage disease 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000056071 SCV001736819 benign Cholestanol storage disease 2021-05-18 criteria provided, single submitter clinical testing
GeneReviews RCV000056071 SCV000087134 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
GenomeConnect, ClinGen RCV000056071 SCV001338877 not provided Cholestanol storage disease no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 05-03-2012 by Lab or GTR ID 504843. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.