ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp)

gnomAD frequency: 0.00003  dbSNP: rs371603253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729197 SCV000856839 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862168 SCV002163844 uncertain significance Cholestanol storage disease 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 323 of the CYP27A1 protein (p.Arg323Trp). This variant is present in population databases (rs371603253, gnomAD 0.02%). 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: 594005). 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 RCV004026966 SCV003695465 uncertain significance Cardiovascular phenotype 2022-10-04 criteria provided, single submitter clinical testing The c.967C>T (p.R323W) alteration is located in exon 5 (coding exon 5) of the CYP27A1 gene. This alteration results from a C to T substitution at nucleotide position 967, causing the arginine (R) at amino acid position 323 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003411670 SCV004116200 uncertain significance CYP27A1-related disorder 2023-03-14 criteria provided, single submitter clinical testing The CYP27A1 c.967C>T variant is predicted to result in the amino acid substitution p.Arg323Trp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV000729197 SCV005188285 uncertain significance not provided criteria provided, single submitter not provided

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.