ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) (rs776814755)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493655 SCV000582329 likely pathogenic not provided 2018-12-13 criteria provided, single submitter clinical testing The C777Y variant in the OCA2 gene has been reported previously in two families with cutaneous malignant melanoma, and one of these probands also harbored an additional variant in the OCA2 gene, although additional clinical information was not provided (Goldstein et al., 2017). The C777Y variant is observed in 8/244,160 (0.003%) total alleles in large population cohorts (Lek et al., 2016). The C777Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missense variants in the same and nearby residues (G775D/R/S, A776D, C777R, G780D, G782R) have been previously reported in the Human Gene Mutation Database in association with oculocutaneous albinism, type 2 (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret C777Y as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000762937 SCV000893360 likely pathogenic Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 2018-10-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.