ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) (rs773970123)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000850232 SCV000965691 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 2019-06-21 criteria provided, single submitter clinical testing A heterozygous variant c.1037G>A (p.Gly346Glu) in exon-3 has been observed in the TYR gene. The proband, born of a non-consanguineous marriage, was suspected to be affected with albinism. The patient in our clinical analysis was observed with the said variant in an autosomal recessive mode of inheritance. The variant has not been reported in the 1000 genomes database and has a minor allele frequency of 0.0008% and 0.007% in the ExAC databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv), SIFT, LRT and MutationTaster2. In summary, the said variant meets our criteria to be classified as likely pathogenic based on the mode of inheritance, in silico prediction and allele frequency in population databases.
University of Washington Center for Mendelian Genomics, University of Washington RCV000755076 SCV000882894 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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