ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg)

dbSNP: rs72551351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003488338 SCV004238788 likely pathogenic not provided 2022-01-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003987318 SCV004805104 likely pathogenic Gilbert syndrome 2024-03-17 criteria provided, single submitter research
OMIM RCV000013076 SCV000033322 pathogenic Crigler-Najjar syndrome type 1 2002-05-01 no assertion criteria provided literature only
Neonatal Research Center, Shiraz University of Medical Science RCV000013076 SCV001653517 pathogenic Crigler-Najjar syndrome type 1 2021-03-10 no assertion criteria provided research We identified an insertion mutation (UGT1A1*28) in the promoter and a missense mutation (c.1070A>G; p.Gln357Arg) in the homozygous state in exon 3 of the UGT1A1 gene in a 4.5 months old boy. We studied the family history of the patient to evaluate the penetration of mutations in the family. The patients are the offspring of consanguineous marriage. Proband had two affected cousins that both of them died due to CNS-1 with similar mutations. They were treated using liver transplantation. Based on predictors, the impact of the c.1070A>G mutation on protein structure is deleterious, damaging, and likely disease-causing. The p.Gln357Arg mutation previously established as a pathogenic variant and well-established in vitro functional studies supportive of a damaging effect on the UGT1A1 gene product. The p.Gln357Arg mutation cosegregation with CNS-1 disease in multiple affected family members in a gene definitively known to cause the disease, and patient’s phenotype is highly specific for a disease with a single genetic etiology.

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