ClinVar Miner

Submissions for variant NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)

gnomAD frequency: 0.00011  dbSNP: rs376670171
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354729 SCV000399962 likely benign Malignant Melanoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473808 SCV000556942 benign Melanoma, cutaneous malignant, susceptibility to, 5 2024-09-23 criteria provided, single submitter clinical testing
3billion RCV000662301 SCV002521043 uncertain significance Tyrosinase-positive oculocutaneous albinism 2022-05-22 criteria provided, single submitter clinical testing The variant is observed as homozygous in at least two unrelated individuals/adults in the gnomAD v.2.1.1 dataset and therefore considered benign. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MC1R- related disorder (ClinVar ID: VCV000321430). However, the evidence of pathogenicity is insufficient at this time with conflicting interpretations of pathogenicity. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000662301 SCV006053880 likely benign Tyrosinase-positive oculocutaneous albinism 2020-09-01 criteria provided, single submitter research
Yale Center for Mendelian Genomics, Yale University RCV000662301 SCV000784629 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 RCV000851262 SCV000993518 likely pathogenic Skin and Hair Hypopigmentation 2015-09-22 no assertion criteria provided research

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