ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter) (rs1554653675)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674113 SCV000799389 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV001233426 SCV001406019 pathogenic not provided 2019-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln73*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CYP11B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 557913). Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). For these reasons, this variant has been classified as Pathogenic.

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