ClinVar Miner

Submissions for variant NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) (rs6475)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622562 SCV000740722 pathogenic Inborn genetic diseases 2014-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000012933 SCV000784270 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000012933 SCV000784271 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711382 SCV000841745 pathogenic not provided 2019-06-18 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in three or more cases with a recessive pathogenic variant in the same gene. Damaging to protein function(s) relevant to disease mechanism.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711382 SCV000854779 pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000012933 SCV000883113 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000012933 SCV000893712 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000012933 SCV001194146 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-12-20 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.518T>A(I173N) is classified as pathogenic in the context of congenital adrenal hyperplasia and is associated with the classic form of the disease. Sources cited for classification include the following: PMID 24667412, 21098686, 24671123, 23359698, 22270556, 19750867 and 3257825. Classification of NM_000500.7(CYP21A2):c.518T>A(I173N) 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.
OMIM RCV000012933 SCV000033174 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1997-07-01 no assertion criteria provided literature only
GeneReviews RCV000012933 SCV000086799 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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