ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)

gnomAD frequency: 0.00014  dbSNP: rs142484434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779553 SCV000916224 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2018-01-22 criteria provided, single submitter clinical testing The CYP11B1 gene is the only gene in which variants are known to cause congenital adrenal hyperplasia. The CYP11B1 c.449C>T (p.Ser150Leu) missense variant has been reported in one study and is found in a compound heterozygous state with a frameshift variant in two siblings with congenital adrenal hyperplasia (Polat et al. 2014). The patients' clinical presentation is described as non-classic 11-beta-hydroxylase deficiency. Control data are unavailable for this variant, which is reported at a frequency of 0.00070 in the European American population of the Exome Sequencing Project. Transiently transfected HEK293 cells demonstrated that the 11-hydroxylase enzyme was partially impaired, with 19% activity compared to wild type. Based on the evidence, the p.Ser150Leu variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital adrenal hyperplasia.
Illumina Laboratory Services, Illumina RCV001165426 SCV001327616 benign Glucocorticoid-remediable aldosteronism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Baylor Genetics RCV000779553 SCV004215327 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-10-20 criteria provided, single submitter clinical testing

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