ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)

gnomAD frequency: 0.00002  dbSNP: rs121912977
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Total submissions: 4
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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, Inc. RCV001271156 SCV001452028 pathogenic Corticosterone methyl oxidase type II deficiency 2020-09-16 no assertion criteria provided clinical testing

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