ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.982G>A (p.Glu328Lys)

dbSNP: rs61754380
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193486 SCV000249344 pathogenic Tyrosinase-negative oculocutaneous albinism 2015-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000193486 SCV001821954 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317144 SCV004020592 uncertain significance not specified 2023-06-01 criteria provided, single submitter clinical testing Variant summary: TYR c.982G>A (p.Glu328Lys) results in a conservative amino acid change located in the tyrosinase copper-binding domain (IPR002227) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251160 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.982G>A has been reported in the literature in at least one individual affected with Oculocutaneous Albinism, however, the genotype/zygosity is not specified and the primary source is not available to independently corroborate the occurrence (e.g. Simeonov_2013, Preising_2011). This report does not provide unequivocal conclusions about association of the variant with Oculocutaneous Albinism. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 21541274, 23504663). Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic and likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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