Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059131 | SCV001223741 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu255*) in the CYP11B2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B2 are known to be pathogenic (PMID: 20494601, 22801770, 26936515). This variant is present in population databases (rs121912977, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with aldosterone synthase deficiency (PMID: 9703385, 15240589). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16880). For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV002250462 | SCV002521390 | pathogenic | Corticosterone methyloxidase type 2 deficiency | 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: <0.001%). 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 to be associated with CYP11B2- related disorder (ClinVar ID: VCV000016880). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
OMIM | RCV000018376 | SCV000038658 | pathogenic | Corticosterone 18-monooxygenase deficiency | 2004-07-01 | no assertion criteria provided | literature only | |
Natera, |
RCV001271156 | SCV001452028 | pathogenic | Corticosterone methyl oxidase type II deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |