ClinVar Miner

Submissions for variant NM_002386.3(MC1R):c.112G>A (p.Val38Met) (rs200050206)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467503 SCV000544751 uncertain significance Cutaneous malignant melanoma 5 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 38 of the MC1R protein (p.Val38Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs200050206, ExAC 0.05%). This variant has been reported in individuals affected with melanoma as well as in control individuals (PMID: 23647022, 19585506, 16982779, 24982914, 22095472). Segregation studies have not been reported for this variant. ClinVar contains an entry for this variant (Variation ID: 406211) Experimental studies have shown that this variant leads to reduced cell surface expression and decreased receptor and signaling activities of the encoded melanocortin 1 receptor protein (PMID: 19338054, 21749400). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764094 SCV000895058 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 RCV000467503 SCV001275559 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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