ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)

dbSNP: rs104894888
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
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000011699 SCV000608377 pathogenic Congenital adrenal hypoplasia, X-linked 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV001851797 SCV002302604 likely pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2021-09-02 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects NR0B1 function (PMID: 10848616, 11443184, 16459121, 20573681). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 10952). This missense change has been observed in individuals with X-linked congenital adrenal hypoplasia (PMID: 7990958, 21925982). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 267 of the NR0B1 protein (p.Arg267Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline.
OMIM RCV000011699 SCV000031931 pathogenic Congenital adrenal hypoplasia, X-linked 2000-07-01 no assertion criteria provided literature only

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.