ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.230G>A (p.Arg77Gln) (rs61753185)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000003975 SCV000249336 pathogenic Tyrosinase-negative oculocutaneous albinism 2015-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000085934 SCV000779692 likely pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The R77Q variant in the TYR gene has been reported previously in association with autosomal recessive oculocutaneous albinism type 1 (Kono et al., 2012). The R77Q variant has also been reported in an individual with a clinical diagnosis of oculocutaneous albinism type 2 who also harbored a variant in the SLC45A2 gene (Wei et al., 2013). Digenic inheritance was suggested for this individual, although functional evidence was not provided (Wei et al., 2013). The R77Q variant is observed in 22/276,762 (0.0079%) global alleles in large population cohorts (Lek et al., 2016). The R77Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Functional studies of the R77Q variant demonstrate a damaging effect with abnormal protein folding and no in vitro enzyme activity (Dolinksa et al., 2017). Missense variants at the same and in nearby residues (R77W, R77G, D75Y, D76E, S79P, W80R, P81S, P81L) have been reported in the Human Gene Mutation Database in association with oculocutaneous albinism type 1 (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret R77Q as a likely pathogenic variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085934 SCV000855376 pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000003975 SCV000890897 pathogenic Tyrosinase-negative oculocutaneous albinism 2017-02-09 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000003975 SCV000996277 pathogenic Tyrosinase-negative oculocutaneous albinism criteria provided, single submitter clinical testing
Baylor Genetics RCV000003975 SCV001524703 pathogenic Tyrosinase-negative oculocutaneous albinism 2020-01-22 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000003975 SCV000024140 pathogenic Tyrosinase-negative oculocutaneous albinism 1992-07-15 no assertion criteria provided literature only
Retina International RCV000085934 SCV000118077 not provided not provided no assertion provided not provided
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000984954 SCV001132868 pathogenic Oculocutaneous albinism type 1B 2019-01-29 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000003975 SCV001132869 pathogenic Tyrosinase-negative oculocutaneous albinism 2019-01-29 no assertion criteria provided clinical testing

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