Submissions for variant NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)

gnomAD frequency: 0.00302  dbSNP: rs138281308

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030156	SCV000052814	uncertain	Obesity	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445401	SCV000537108	likely benign	Monogenic diabetes	2018-12-07	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.120 + 8 predictors; not using PP3 predictors) + BS2 (29 cases + 27 controls in T2Dgenes): likely benign
GeneDx	RCV000610107	SCV000728692	likely benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000889153	SCV001032815	benign	not provided	2023-10-29	criteria provided, single submitter	clinical testing
Mendelics	RCV003323279	SCV001140916	benign	Inherited obesity	2023-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030156	SCV001287366	benign	Obesity	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago	RCV000610107	SCV002067486	likely benign	not specified	2018-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974862	SCV004798276	benign	MC4R-related condition	2021-10-19	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).