ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)

dbSNP: rs763195324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667072 SCV000791465 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV001040067 SCV001203622 pathogenic not provided 2022-11-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551903). This premature translational stop signal has been observed in individual(s) with adrenal hyperplasia (PMID: 9435454). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln19*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331).
Baylor Genetics RCV000667072 SCV004215342 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-08-26 criteria provided, single submitter clinical testing

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