ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)

dbSNP: rs104894070
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517938 SCV000613039 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Invitae RCV000517938 SCV001376351 pathogenic not provided 2023-07-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CYP11B1 function (PMID: 16670167). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CYP11B1 protein function. ClinVar contains an entry for this variant (Variation ID: 1186). This missense change has been observed in individuals with congenital adrenal hyperplasia (PMID: 16046588, 16670167, 25911436, 26956189). This variant is present in population databases (rs104894070, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 94 of the CYP11B1 protein (p.Pro94Leu).
Fulgent Genetics, Fulgent Genetics RCV002490289 SCV002812329 pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-02-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000001245 SCV004215367 pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-01-04 criteria provided, single submitter clinical testing
OMIM RCV000001245 SCV000021395 pathogenic Deficiency of steroid 11-beta-monooxygenase 2006-07-01 no assertion criteria provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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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