ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.583T>G (p.Phe195Val) (rs377580634)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231910 SCV000287384 uncertain significance Cutaneous malignant melanoma 5 2016-02-15 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 195 of the MC1R protein (p.Phe195Val). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is present in population databases (rs377580634, ExAC 0.002%). This variant has been reported in individuals affected with primary melanoma (PMID:16982779). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764097 SCV000895061 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

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