ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.864+5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005023695 SCV005651550 likely pathogenic Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737723 SCV005364158 likely pathogenic UGT1A1-related disorder 2024-07-30 no assertion criteria provided clinical testing The UGT1A1 c.864+5G>T variant is predicted to interfere with splicing. This variant has been reported in the compound heterozygous state in individuals with Crigler-Najjar syndrome 2. Variant A(TA)7TAA (c.-41_-40dupTA) was also detected in the individuals and considered to further impair expression of bilirubin UDP-glucuronosyltransferase 1 (Passuello et al. 2009. PubMed ID: 19752526; Gailite et al. 2018. PubMed ID: 30285761). The functional study showed that the c.864+5G>T variant is likely to inactivate UGT1A1 (Gailite et al. 2020. PubMed ID: 32211025). This variant is reported in 0.036% of alleles in individuals of European (Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic.

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