ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter)

gnomAD frequency: 0.00001  dbSNP: rs1214983921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210277 SCV001381756 pathogenic not provided 2023-08-28 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: 940650). This premature translational stop signal has been observed in individual(s) with 11 beta-hydroxylase deficiency (PMID: 8506298, 12966519). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln338*) 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).
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002291733 SCV002583900 pathogenic Deficiency of steroid 11-beta-monooxygenase 2022-01-10 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 6 of the ZMIZ1 gene that results in a stop codon and premature truncation of the protein at codon 409 (p.Gln409Ter) was detected.The c.1225C>T variant has not been reported in the 1000 genomes database and has not been reported in the gnomAD and genome databases. The reference codon is conserved across species.
Fulgent Genetics, Fulgent Genetics RCV005049788 SCV005675079 pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-01-12 criteria provided, single submitter clinical testing

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