ClinVar Miner

Submissions for variant NM_002386.4(MC1R):c.517GTC[1] (p.Val174del)

dbSNP: rs747777879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855403 SCV002154291 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 5 2024-12-05 criteria provided, single submitter clinical testing This variant, c.520_522del, results in the deletion of 1 amino acid(s) of the MC1R protein (p.Val174del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs747777879, gnomAD 0.05%). This variant has been observed in individual(s) with melanoma or hypopigmentation (PMID: 15221796, 26197705). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects MC1R function (PMID: 26197705). 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.
Yale Center for Mendelian Genomics, Yale University RCV000662302 SCV000784630 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-09-22 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851263 SCV000993519 likely pathogenic Skin and Hair Hypopigmentation 2015-09-22 no assertion criteria provided research

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