ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg)

dbSNP: rs1559415403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733308 SCV000861356 likely pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021140 SCV005651556 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 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737991 SCV005362344 likely pathogenic UGT1A1-related disorder 2024-08-07 no assertion criteria provided clinical testing The UGT1A1 c.1160_1161delinsGT variant is predicted to result in an in-frame deletion and insertion. This variant in the homozygous or compound heterozygous state has been reported in patients with Crigler-Najjar Syndrome. In vitro experiments showed that the UGT1A1 protein with p.Pro387Arg substitution had residual activity at pH 7.6 but was fully inactive at pH 6.4 (Ciotti et al. 1997. PubMed ID: 9028453). Additionally, other substitutions at the same amino acid (p.Pro387Ser and p.Pro387His) have also been associated with Crigler-Najjar Syndrome (Servedio et al. 2005. PubMed ID: 15712364; Sneitz et al. 2010. PubMed ID: 19830808). 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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