ClinVar Miner

Submissions for variant NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) (rs202117698)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490486 SCV000267440 likely pathogenic Pigmented nodular adrenocortical disease, primary, 2 2016-03-18 criteria provided, single submitter reference population
Reproductive Health Research and Development,BGI Genomics RCV000490486 SCV001142324 uncertain significance Pigmented nodular adrenocortical disease, primary, 2 2020-01-06 no assertion criteria provided curation NM_001077197.1:c.20_21delGA in PDE11A gene has an allele frequency of 0.013 in European (Finnish) subpopulation in the gnomAD database. This variant is expected to result in an absent or disrupted protein product. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PDE11A cause disease. The available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ACMG/AMP criteria applied: BS1.

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.