ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)

gnomAD frequency: 0.00001  dbSNP: rs140336749
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050223 SCV000789232 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-01-26 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000050223 SCV002073184 pathogenic Deficiency of steroid 11-beta-monooxygenase criteria provided, single submitter clinical testing The missense variant p.R143W in CYP11B1 (NM_000497.4) has been previously reported in affected patients (Mooji CF et al). Functional studies show a damaging effect (Menabo S et al). The variant has been submitted to ClinVar as Likely Pathogenic.In silico tools predict a damaging effect and the residue is conserved across species. For these reasons, this variant has been classified as Pathogenic
Invitae RCV001781383 SCV002184742 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 143 of the CYP11B1 protein (p.Arg143Trp). This variant is present in population databases (rs140336749, gnomAD 0.1%). This missense change has been observed in individuals with clinical features of adrenal hyperplasia (PMID: 23940125, 24022297, 26053152). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56831). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CYP11B1 protein function. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 23940125). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000050223 SCV004215343 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-08-18 criteria provided, single submitter clinical testing
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel RCV000050223 SCV000082802 not provided Deficiency of steroid 11-beta-monooxygenase no assertion provided not provided

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