Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000001244 | SCV000790308 | likely pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000001244 | SCV000967661 | pathogenic | Deficiency of steroid 11-beta-monooxygenase | 2018-06-27 | criteria provided, single submitter | clinical testing | The p.Tyr423X variant in CYP11B1 has been reported in the compound heterozygote state in 1 individual with non-classic adrenal hyperplasia due to 11 beta-hydrox ylase deficiency (Joehrer 1997). This variant has been identified in 2/126704 Eu ropean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org; dbSNP rs267606755). This nonsense variant leads to a premature termination codon at position 423 which is predicted to lead to a truncated or a bsent protein. In summary, this variant meets criteria to be classified as patho genic for non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency in an autosomal recessive manner based upon a case report, low frequency in con trols and predicted impact on protein. Criteria applied: PVS1, PM2, PM3_Supporti ng. |
OMIM | RCV000001244 | SCV000021394 | pathogenic | Deficiency of steroid 11-beta-monooxygenase | 1997-10-01 | no assertion criteria provided | literature only |