ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) (rs146124466)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050222 SCV000790567 pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-03-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711392 SCV000841755 pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763178 SCV000893776 pathogenic Deficiency of steroid 11-beta-monooxygenase; Hyperaldosteronism, familial, type I 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000711392 SCV000957759 pathogenic not provided 2018-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln356*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs146124466, ExAC 0.09%). This variant has been observed in the homozygous or compound heterozygous state in several individuals with CYP11B1-related conditions (PMID: 8506298, 27821898, 24022297, 12966519). ClinVar contains an entry for this variant (Variation ID: 56830). Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). For these reasons, this variant has been classified as Pathogenic.
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel RCV000050222 SCV000082801 not provided Deficiency of steroid 11-beta-monooxygenase no assertion provided not provided

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