ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) (rs1805006)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413549 SCV000491309 likely pathogenic not provided 2016-02-29 criteria provided, single submitter clinical testing The D84E variant in the MC1R gene has been reported numerous times in association with MC1R-related phenotypes including red hair and an increased risk for UV exposure-related melanoma (Ibarrola-Villava et al., 2014; Puig-Butillé et al., 2013; Latreille et al., 2009; Raimondi et al., 2008). The NHLBI ESP Exome Sequencing Project reports D84E was observed in 1% (86/8576) alleles from individuals of European American background. Functional studies have shown that the D84E variant results in reduced cell surface expression and a decreased ability to elevate intracellular cAMP levels (Beaumont et al., 2007). The D84E variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. The D84E variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Illumina Clinical Services Laboratory,Illumina RCV000375124 SCV000399945 likely benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000015380 SCV000287378 benign Cutaneous malignant melanoma 5 2017-12-19 criteria provided, single submitter clinical testing
OMIM RCV000015380 SCV000035641 risk factor Cutaneous malignant melanoma 5 1996-10-01 no assertion criteria provided literature only

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.