ClinVar Miner

Submissions for variant NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) (rs52820871)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000202590 SCV000409974 likely benign Obesity 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419291 SCV000510930 likely benign not provided 2016-12-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445524 SCV000537107 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.138 + 7 predictors), BA1 (1.1% in gnomAD ENF), BS2 (142 cases and 120 controls in; susceptibility factor with conflicting data (protective and obesity susceptibility), called polymorphism in multiple publications=benign
Genetic Services Laboratory, University of Chicago RCV000501342 SCV000595714 likely benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000419291 SCV000842719 benign not provided 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV000419291 SCV001106702 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
UCL Genetics Institute,UCL RCV000202590 SCV000257525 protective Obesity 2014-12-23 no assertion criteria provided case-control
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000202590 SCV000692301 uncertain significance Obesity 2012-06-22 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. 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.