ClinVar Miner

Submissions for variant NM_000275.2(OCA2):c.2207C>T (p.Ser736Leu) (rs780296175)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724171 SCV000227760 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000176150 SCV000617266 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing The S736L variant in the OCA2 gene has been reported previously in association with oculocutaneous albinism, type 2 (Spritz et al., 1997). The S736L variant is observed in 4/111644 (0.004%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). The S736L 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (S732L, A733P, I739T, N741K) have been reported in the Human Gene Mutation Database in association with oculocutaneous albinism (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret S736L as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000192656 SCV000248369 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2015-06-16 criteria provided, single submitter clinical testing

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