ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) (rs9378251)

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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 Inc RCV000711390 SCV000841753 pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000012938 SCV000893710 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000012938 SCV001194148 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-12-17 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.92C>T(P31L) is classified as pathogenic in the context of congenital adrenal hyperplasia, CYP21A2-related and is associated with the non-classic form of disease. Sources cited for classification include the following: PMID 23142378, 16427797, 23359698, 1644925, 2072928 and 9215318. Classification of NM_000500.7(CYP21A2):c.92C>T(P31L) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000711390 SCV001449882 pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing
OMIM RCV000012938 SCV000033179 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1997-07-01 no assertion criteria provided literature only
GeneReviews RCV000012938 SCV000086805 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000012938 SCV000590901 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2017-07-28 no assertion criteria provided clinical testing This variant has been reported in 1000 genomes database, dbSNP(rs9378251) and HGMD. The in silico prediction of this variant is disease-causing by MutationTaster.

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