ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) (rs377423817)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673379 SCV000798576 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2018-03-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000673379 SCV000916225 uncertain significance Deficiency of steroid 11-beta-monooxygenase 2017-08-16 criteria provided, single submitter clinical testing The CYP11B1 c.385G>A (p.Val129Met) missense variant has been reported in one study and is found in a compound heterozygous state with a second missense variant in one individual withcongenital adrenal hyperplasia due to 11β-hydroxylase deficiency. The individual presented precocious puberty and gynecomastia (Geley et al. 1996). Control data are unavailable for this variant, which is reported at a frequency of 0.000027 in the European (non-Finnish) population of the Genome Aggregation Database. Functionally, Geley et al. (1996) demonstrated that 11β-hydroxylase activity was completely abolished in COS1 cells expressing the p.Val129Met variant protein, as compared with cells expressing the wild type protein. Based on the limited evidence, the p.Val129Met is classified as a variant of unknown significance but suspicious for pathogenicity for congenital adrenal hyperplasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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