ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.1321C>T (p.Arg441Cys) (rs143033456)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725932 SCV000340622 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000725932 SCV000572957 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing The R442C variant in the UGT1A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R442C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R442C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret R442C as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765634 SCV000896962 uncertain significance 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

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