ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)

gnomAD frequency: 0.00001  dbSNP: rs267601810
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673573 SCV000798791 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2018-04-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711402 SCV000841766 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV000711402 SCV002278872 likely pathogenic not provided 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 141 of the CYP11B1 protein (p.Arg141Gln). This variant is present in population databases (rs267601810, gnomAD 0.003%). This missense change has been observed in individuals with 11-beta-hydroxylase deficiency (PMID: 24987415, 26956189). ClinVar contains an entry for this variant (Variation ID: 77208). 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 with a positive predictive value of 95%. 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.
PreventionGenetics, part of Exact Sciences RCV003421968 SCV004117636 likely pathogenic CYP11B1-related disorder 2023-05-11 criteria provided, single submitter clinical testing The CYP11B1 c.422G>A variant is predicted to result in the amino acid substitution p.Arg141Gln. This variant has been reported in a compound heterozygous state with another variant in individuals with 11 beta-hydroxylase deficiency (Dumic et al. 2014. PubMed ID: 24987415; Table S1 - Khattab et al. 2017. PubMed ID: 28228528). This variant was also reported with another novel variant in an individual with 11 beta-hydroxylase deficiency (Kandemir et al. 2017. PubMed ID: 26956189). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD ( This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV000673573 SCV004215330 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-10-18 criteria provided, single submitter clinical testing

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