ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.332C>T (p.Ala111Val) (rs201489928)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526662 SCV000648546 uncertain significance Cutaneous malignant melanoma 5 2017-05-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 111 of the MC1R protein (p.Ala111Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs201489928, ExAC 0.03%). This variant has been reported in the literature in individuals with melanoma (PMID: 18983535, 16567973), as well as in healthy controls (PMID: 15221796, 16601669). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764096 SCV000895060 uncertain significance Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Cutaneous malignant melanoma 5 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000526662 SCV001279488 likely benign Cutaneous malignant melanoma 5 2017-04-27 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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