ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) (rs560108684)

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
Counsyl RCV000673959 SCV000799222 uncertain significance Cholestanol storage disease 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000673959 SCV000960676 uncertain significance Cholestanol storage disease 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 513 of the CYP27A1 protein (p.Arg513Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs560108684, ExAC 0.03%). This variant has been observed to segregate with cerebrotendinous xanthomatosis in a single family (PMID: 28623566). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). The observation of one or more missense substitutions at this codon (p.Arg513His and p.Arg513Cys) in affected individuals suggests that this may be a clinically significant residue (PMID: 28623566, 22878431). 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. RCV000673959 SCV001459903 uncertain significance Cholestanol storage disease 2020-09-16 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.