ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.595+1G>A (rs1264073726)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667755 SCV000792254 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-06-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732722 SCV000860703 pathogenic not provided 2018-03-30 criteria provided, single submitter clinical testing
Internal Medicine,University of Pretoria RCV000667755 SCV001192849 pathogenic Deficiency of steroid 11-beta-monooxygenase 2020-03-31 criteria provided, single submitter clinical testing Abolishes a canonical splice site in intron3/exon3.
Invitae RCV000732722 SCV001227308 likely pathogenic not provided 2020-10-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the CYP11B1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another CYP11B1 variant in an individual affected with adrenal hyperplasia (PMID: 28228528). ClinVar contains an entry for this variant (Variation ID: 552484). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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