ClinVar Miner

Submissions for variant NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) (rs387906510)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711378 SCV000841741 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Myriad Women's Health, Inc. RCV000012946 SCV001194143 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2019-12-17 criteria provided, single submitter clinical testing NM_000500.7(CYP21A2):c.332_339del8(G111Vfs*21) is classified as pathogenic in the context of congenital adrenal hyperplasia, CYP21A2-related and is associated with classic disease. Sources cited for classification include the following: PMID 25227725, 8081391, 23359698, 25121463 and 12788880 . Classification of NM_000500.7(CYP21A2):c.332_339del8(G111Vfs*21) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
OMIM RCV000012946 SCV000033190 pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2003-06-01 no assertion criteria provided literature only
GeneReviews RCV000012946 SCV000086798 pathologic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.