ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)

gnomAD frequency: 0.00018  dbSNP: rs114982090
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178772 SCV000230926 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178772 SCV001684862 likely benign not provided 2024-10-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000178772 SCV001714678 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478593 SCV002789851 uncertain significance Bilirubin, serum level of, quantitative trait locus 1; Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 2022-05-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737281 SCV005367191 uncertain significance UGT1A1-related disorder 2024-09-24 no assertion criteria provided clinical testing The UGT1A1 c.1352C>T variant is predicted to result in the amino acid substitution p.Pro451Leu. This variant has been reported in a patient with hereditary spherocytosis (Patient 19, Table S6, Choi et al. 2019. PubMed ID: 31122244), in combination with a second UGT1A1 variant and another variant in the ANK1 gene. It has also been reported in an infant with biliary atresia (Laochareonsuk. 2022. PubMed ID: 36350824) and an infant with severe hyperbilirubinemia (Yang. 2016. PubMed ID: 26727668). However, this variant is reported in 0.53% of alleles in individuals of East Asian descent in gnomAD, which may be too frequent to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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