ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)

dbSNP: rs1256580853
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518608 SCV000613034 pathogenic not provided 2013-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000668755 SCV000793405 pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000518608 SCV002244480 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with congenital adrenal hyperplasia (PMID: 10487675). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 447222). This variant is also known as R394del1. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Asn394Thrfs*36) 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).
Fulgent Genetics, Fulgent Genetics RCV002481670 SCV002801673 pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403212 SCV004111735 pathogenic CYP11B1-related disorder 2022-11-02 criteria provided, single submitter clinical testing The CYP11B1 c.1181delA variant is predicted to result in a frameshift and premature protein termination (p.Asn394Thrfs*36). This variant has been reported to be pathogenic for autosomal recessive 11-ß-hydroxylase deficiency (see for example at Cerame et al. 1999. PubMed ID: 10487675, reported as R394∆1). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-143956668-GT-G). Frameshift variants in CYP11B1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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