ClinVar Miner

Submissions for variant NM_000529.2(MC2R):c.459dup (p.Ile154fs)

dbSNP: rs1555619430
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000512930 SCV005088767 pathogenic Glucocorticoid deficiency 1 2022-03-10 criteria provided, single submitter clinical testing This variant (also known as c.459_460insC; p.I154fsX248 in the literature) has been reported in patients with familial glucocorticoid deficiency in homozygous state [PMID: 21778684, 19170705].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000512930 SCV004231776 pathogenic Glucocorticoid deficiency 1 2023-05-12 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000512930 SCV000608359 pathogenic Glucocorticoid deficiency 1 2017-06-27 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000512930 SCV001469201 pathogenic Glucocorticoid deficiency 1 2020-09-10 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000584664 SCV000692312 pathogenic Glucocorticoid Deficiency 2015-03-06 no assertion criteria provided clinical testing

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.