ClinVar Miner

Submissions for variant NM_001026213.1(CYP11B1):c.317_344del (p.Leu106fs) (rs764418169)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667039 SCV000791428 pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-05-10 criteria provided, single submitter clinical testing
Invitae RCV000820022 SCV000960714 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu106Profs*18) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CYP11B1-related disease. 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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