ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) (rs267606755)

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Total submissions: 3
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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,Partners HealthCare Personalized 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

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