ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) (rs142484434)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,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.

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