Total submissions: 8
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, |
RCV000763178 | SCV000893776 | pathogenic | Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
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, |
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 |