ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)

dbSNP: rs1554653675
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Total submissions: 3
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001233426 SCV001406019 pathogenic not provided 2022-11-29 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: 557913). This premature translational stop signal has been observed in individual(s) with CYP11B1-related conditions (PMID: 32850530). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331).
Baylor Genetics RCV000674113 SCV004215353 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-06-29 criteria provided, single submitter clinical testing

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