ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)

gnomAD frequency: 0.00001  dbSNP: rs387907572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050225 SCV000796019 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV001239586 SCV001412469 pathogenic not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 306 of the CYP11B1 protein (p.Ala306Val). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 24022297). 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 CYP11B1 protein function. ClinVar contains an entry for this variant (Variation ID: 56833). This missense change has been observed in individual(s) with adrenal hyperplasia (PMID: 15807871, 24022297). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
Baylor Genetics RCV000050225 SCV004215371 pathogenic Deficiency of steroid 11-beta-monooxygenase 2022-08-30 criteria provided, single submitter clinical testing
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel RCV000050225 SCV000082804 not provided Deficiency of steroid 11-beta-monooxygenase no assertion provided 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.