ClinVar Miner

Submissions for variant NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)

dbSNP: rs104894899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635250 SCV000756636 likely pathogenic Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 2022-06-09 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. This variant disrupts the p.Leu381Pro amino acid residue in NR0B1. Other variant(s) that disrupt this residue have been observed in individuals with NR0B1-related conditions (PMID: 11113848, 28546232), which suggests that this may be a clinically significant amino acid residue. 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 expected to disrupt NR0B1 protein function. ClinVar contains an entry for this variant (Variation ID: 492856). This missense change has been observed in individual(s) with clinical features of congenital adrenal hypoplasia (PMID: 31263616). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 381 of the NR0B1 protein (p.Leu381Pro).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584385 SCV000692289 pathogenic Congenital adrenal hypoplasia, X-linked 2008-02-13 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.