ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)

gnomAD frequency: 0.00001  dbSNP: rs764598023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667465 SCV000791918 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763177 SCV000893775 likely pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-01-19 criteria provided, single submitter clinical testing
Invitae RCV001386864 SCV001587253 pathogenic not provided 2024-01-24 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 384 of the CYP11B1 protein (p.Arg384Gln). This variant is present in population databases (rs764598023, gnomAD 0.0009%). This missense change has been observed in individuals with 11-beta-hydroxylase deficiency (PMID: 8506298, 15751602, 20089618, 26956189). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 552238). 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%. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 8506298). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001386864 SCV002759186 likely pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing Identified in an individual with clinical and biochemical features of 11 beta-hydroxylase deficiency in published literature (Curnow et al., 1993); Functional studies demonstrate a damaging effect (impaired function of CYP11B1 resulting in disrupted enzymatic activity) (Curnow et al., 1993); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 8506298)
Baylor Genetics RCV000667465 SCV004215363 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-03-06 criteria provided, single submitter clinical testing

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