ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.862-6073T>G (rs35003977)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147904 SCV000195395 uncertain significance Hyperbilirubinemia 2013-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348706 SCV000428652 likely pathogenic Crigler-Najjar syndrome 2017-04-27 criteria provided, single submitter clinical testing The UGT1A1 c.674T>G (p.Val225Gly) variant is reported in a total of six individuals with Crigler-Najjar syndrome, including five compound heterozygotes and one heterozygote in whom a second variant was not identified (Iolascon et al. 2000; Servedio et al. 2005; Maruo et al. 2015). The variant was also found in one unaffected heterozygous parent of an affected individual. The p.Val225Gly variant was absent from 150 total controls but is reported at a frequency of 0.00212 in the South Asian population of the Exome Aggregation Consortium. Enzyme activity of the p.Val225Gly variant protein was found to be 61% as compared to wild type (Maruo et al. 2015). Based on the evidence, the p.Val225Gly variant is classified as likely pathogenic for Crigler-Najjar syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Illumina Clinical Services Laboratory,Illumina RCV000396791 SCV000428653 uncertain significance Lucey-Driscoll syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313763 SCV000428654 uncertain significance Gilbert's syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592026 SCV000705902 other not provided 2018-02-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000592026 SCV000884825 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing

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