ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) (rs1805008)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255906 SCV000321870 pathogenic not provided 2016-04-07 criteria provided, single submitter clinical testing The R160W variant in the MC1R gene has been reported numerous times in the homozygous and compound heterozygous state in association with MC1R-related phenotypes including red hair, changes in skin pigmentation, and an increased risk for UV exposure-related melanoma (Smith et al., 1998; Raimondi et al., 2008; Szell et al., 2008; Hoiom et al., 2009). The NHLBI ESP Exome Sequencing Project reports R160W was observed in 7.7% (663/8594) alleles from individuals of European American background. The R160W variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. Functional studies have shown that the R160W variant reduces cell surface expression of the MC1R protein and results in loss of cAMP signalling (Beaumont et al., 2007; Sanchez-Laorden et al., 2009). We interpret R160W as a risk allele associated with an increased risk for UV exposure-related melanoma.
Illumina Clinical Services Laboratory,Illumina RCV000356300 SCV000399959 likely benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000015381 SCV000035642 association Skin/hair/eye pigmentation 2, red hair/fair skin 2015-05-01 no assertion criteria provided literature only
OMIM RCV000015382 SCV000035643 affects Increased analgesia from kappa-opioid receptor agonist, female-specific 2015-05-01 no assertion criteria provided literature only
OMIM RCV000015383 SCV000035644 risk factor OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF 2015-05-01 no assertion criteria provided literature only
PreventionGenetics RCV000244718 SCV000308871 likely benign not specified criteria provided, single submitter clinical testing

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