ClinVar Miner

Submissions for variant NM_000941.3(POR):c.1363del (p.Gln455fs) (rs781805159)

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
Illumina Clinical Services Laboratory,Illumina RCV000779537 SCV000916204 likely pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2018-10-19 criteria provided, single submitter clinical testing The POR c.1363delC (p.Gln455ArgfsTer90) variant is a frameshift variant that is predicted to result in premature termination of the protein. The p.Gln455ArgfsTer90 variant has been reported in two studies and is found in a compound heterozygous state in a total of two individuals affected with cytochrome P450 oxidoreductase deficiency (Sahakitrungruang et al. 2009; Krone et al. 2012). The second variant identified in these individuals is either a missense variant or a splice site variant. Control data are unavailable for this variant, which is reported at a frequency of 0.000049 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the evidence and the potential impact of frameshift variants, the p.Gln455ArgfsTer90 variant is classified as likely pathogenic for cytochrome P450 oxidoreductase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.