ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) (rs28934877)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779315 SCV000915898 uncertain significance UGT1A1-Related Disorders 2018-11-21 criteria provided, single submitter clinical testing The UGT1A1 c.1198A>G (p.Asn400Asp) missense variant has been reported in one study and is found in a total of three patients including one in a homozygous state with Crigler-Najjar syndrome type II (CN-II) and two in a heterozygous state with Gilbert syndrome (Labrune et al. 2002). The patient with CN-II carried a second homozygous variant in the TATA box promoter region identified as UGT1A1*37. The p.Asn400Asp variant was absent from 50 control chromosomes and is reported at a frequency of 0.00007 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the limited evidence, the p.Asn400Asp variant is classified as a variant of unknown significance but suspicious for pathogenicity for UGT1A1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000013079 SCV000033325 pathogenic Crigler-Najjar syndrome, type II 2002-11-01 no assertion criteria provided literature only
OMIM RCV000013080 SCV000033326 affects Gilbert's syndrome 2002-11-01 no assertion criteria provided literature only

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