ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)

gnomAD frequency: 0.00032  dbSNP: rs146124466
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050222 SCV000790567 pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-03-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711392 SCV000841755 pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763178 SCV000893776 pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711392 SCV000957759 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln356*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). This variant is present in population databases (rs146124466, gnomAD 0.08%). This premature translational stop signal has been observed in individuals with CYP11B1-related conditions (PMID: 8506298, 12966519, 24022297, 27821898). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 56830). For these reasons, this variant has been classified as Pathogenic.
3billion RCV000050222 SCV002521008 pathogenic Deficiency of steroid 11-beta-monooxygenase 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.007%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000056830 / PMID: 8506298). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000050222 SCV004099220 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-07-18 criteria provided, single submitter clinical testing PVS1, PM2, PM3_Strong
Baylor Genetics RCV000050222 SCV004215326 pathogenic Deficiency of steroid 11-beta-monooxygenase 2024-02-24 criteria provided, single submitter clinical testing
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel RCV000050222 SCV000082801 not provided Deficiency of steroid 11-beta-monooxygenase no assertion provided not provided

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