ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) (rs34946978)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194762 SCV000249367 likely pathogenic Hyperbilirubinemia 2014-09-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000300556 SCV000335445 other not provided 2018-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000300556 SCV000521290 likely pathogenic not provided 2016-11-16 criteria provided, single submitter clinical testing The P364L variant in the UGT1A1 gene has been identified in the homozygous state and in the heterozygous state in individuals with Crigler-Najjar syndrome type II and Gilbert syndrome who were heterozygous for a second UGT1A1 variant (Takeuchi et al., 2004; Li et al., 2015; Yang et al., 2016). The P364L variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. However, P364L was observed with an allele frequency of 1.1% in individuals from East Asia (McVean et al., 2012). The P364L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Functional studies indicate that cells expressing P364L have 64% lower UGT1A1 enzyme activity compared to wild type (Takeuchi et al., 2004; Mimura et al., 2011). The P364L variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000300556 SCV000884824 pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763479 SCV000894262 likely pathogenic Bilirubin, serum level of, quantitative trait locus 1; Crigler Najjar syndrome, type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert's syndrome 2018-10-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.