ClinVar Miner

Submissions for variant NM_005912.3(MC4R):c.307G>A (p.Val103Ile) (rs2229616)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000202600 SCV000409976 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445452 SCV000537109 benign Monogenic diabetes 2019-01-18 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.050 + 6 predictors; not using PP3/4 predictors), BA1 (overall MAF in gnomAD 1.6%; over 2% in multiple subpop), BS2 (51 homozygotes in gnomAD, 237 cases and 277 controls in type2diabetesgenetics.org)=benign
UCL Genetics Institute,UCL RCV000202600 SCV000257526 protective Obesity 2014-12-23 no assertion criteria provided case-control
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000202600 SCV000692298 uncertain significance Obesity 2014-09-18 no assertion criteria provided clinical testing
OMIM RCV000768671 SCV000900038 benign MELANOCORTIN 4 RECEPTOR POLYMORPHISM 1999-04-01 no assertion criteria provided literature only
OMIM RCV000768672 SCV000900039 protective OBESITY, RESISTANCE TO 1999-04-01 no assertion criteria provided literature only

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