ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.862-6061C>A (rs35350960)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147905 SCV000195396 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000299521 SCV000344304 other not provided 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV000299521 SCV001111446 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281856 SCV001156826 pathogenic none provided 2019-08-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000147905 SCV001653054 uncertain significance not specified 2020-06-19 criteria provided, single submitter clinical testing The p.Pro229Gln variant in UGT1A1 has been reported in the heterogygous and compound heterozygous state in numerous individuals with Gilbert syndrome or Crigler-Najjar syndrome type II , however, most of them were also homozygous for other pathogenic variants in the gene. This variant has also been reported in ClinVar (Variation ID 12274). It has been identified in 1.9% (389/19954) of East Asian chromosomes by gnomAD (https://gnomad.broadinstitute.org/). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In vitro functional studies provide some evidence that this variant impacts protein function (Gagne 2002 PMID: 12181437, Udomuksorn 2007 PMID: 18004206); however, these types of assays may not accurately represent biological function. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PS3_Supporting, BS1_Supporting, BP4.
Mayo Clinic Laboratories, Mayo Clinic RCV000299521 SCV001714674 pathogenic not provided 2020-07-09 criteria provided, single submitter clinical testing
OMIM RCV000013062 SCV000033308 affects Gilbert syndrome 2007-12-01 no assertion criteria provided literature only
OMIM RCV000013063 SCV000033309 pathogenic Crigler-Najjar syndrome, type II 2007-12-01 no assertion criteria provided literature only
Difficult and Complicated Liver Diseases and Artificial Liver Center,Beijing You An Hospital, Capital Medical University RCV000013062 SCV001156254 pathogenic Gilbert syndrome 2019-05-01 no assertion criteria provided case-control

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