ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) (rs104894070)

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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 Inc RCV000517938 SCV000613039 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000517938 SCV001376351 pathogenic not provided 2019-09-19 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 94 of the CYP11B1 protein (p.Pro94Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with congenital adrenal hyperplasia (PMID: 16046588, 25911436, 26956189, 16670167). ClinVar contains an entry for this variant (Variation ID: 1186). This variant has been reported to affect CYP11B1 protein function (PMID: 16670167). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001245 SCV000021395 pathogenic Deficiency of steroid 11-beta-monooxygenase 2006-07-01 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029646 SCV000052298 not provided Congenital adrenal hyperplasia 2015-10-02 no assertion provided clinical testing
Counsyl RCV000001245 SCV000793456 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-08-16 no assertion criteria provided clinical testing

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