ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)

dbSNP: rs758714890
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001909041 SCV002172703 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn394Argfs*37) 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). This variant is present in population databases (rs758714890, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive adrenal hyperplasia (PMID: 1430088). This variant is also known as a 2-bp insertion at codon 394. ClinVar contains an entry for this variant (Variation ID: 1403418). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV002279773 SCV004190272 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-11-20 criteria provided, single submitter clinical testing ACMG:PVS1 PM2 PP3
OMIM RCV002279773 SCV000021384 pathogenic Deficiency of steroid 11-beta-monooxygenase 1992-11-01 no assertion criteria provided literature only

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