ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)

gnomAD frequency: 0.00001  dbSNP: rs1476500325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817805 SCV002069236 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536348 SCV004755362 likely pathogenic UGT1A1-related disorder 2024-03-05 no assertion criteria provided clinical testing The UGT1A1 c.1381T>C variant is predicted to result in the amino acid substitution p.Trp461Arg. This variant was reported in the homozygous and compound heterozygous states in at least four individuals with Crigler-Najjar syndrome (Maruo et al. 2003. PubMed ID: 14581810; Servedio et al. 2005. PubMed ID: 15712364; Perretti et al. 2007. PubMed ID: 18058623). Functional studies showed that this variant results in no detectable enzyme activity (Maruo et al. 2003. PubMed ID: 14581810). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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