Total submissions: 4
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 |