ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.140G>A (p.Gly47Asp) (rs61753180)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085925 SCV000515217 pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing The G47D pathogenic variant in the TYR gene has been reported previously in the homozygous state, or compound heterozygous state along with a second variant, in multiple individuals with oculocutaneous albinism type 1 (Oetting et al., 1993). Haplotype analysis revealed the G47D variant is a founder mutation in individuals from the northwestern area of Puerto Rico (Oetting et al., 1993). A variant at the same codon (G47S) has also been reported in association with oculocutaneous albinism (Khordadpoor-Deilamani et al., 2015). The G47D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G47D 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G47D as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000003997 SCV000597781 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763287 SCV000893934 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 2018-10-31 criteria provided, single submitter clinical testing
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV000003997 SCV000998906 pathogenic Tyrosinase-negative oculocutaneous albinism criteria provided, single submitter research
OMIM RCV000003997 SCV000024163 pathogenic Tyrosinase-negative oculocutaneous albinism 2008-11-15 no assertion criteria provided literature only
OMIM RCV000003998 SCV000024164 pathogenic Oculocutaneous albinism type 1B 2008-11-15 no assertion criteria provided literature only
Retina International RCV000085925 SCV000118068 not provided not provided no assertion provided not provided

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