ClinVar Miner

Submissions for variant NM_001072.4(UGT1A6):c.862-6394dup (rs748219743)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622908 SCV000741954 pathogenic Inborn genetic diseases 2016-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000256423 SCV000322736 pathogenic Crigler-Najjar syndrome type 1 2019-02-26 no assertion criteria provided clinical testing The observed variant NM_000463.2:c.353dupA/p.D119G fs*28 in exon 1 of the UTG1A1 gene has not been reported in the 1000 Genomes and ExAC databases. The in silico prediction of this variant is disease causing by MutationTaster2. The proband, born of a non-consanguineous marriage presented with neonatal jaundice. Molecular studies revealed her to be homozygous for the above mentioned variant. Her younger brother also presented with a similar phenotype. Molecular analysis was carried out for brother and both parents for the presence of the aforementioned variant. The brother was homozygous for the same variant as observed in the proband. The parents were both found to be carriers for the same variant. Since both the children were affected and had homozygous mutant genotype as compared to the heterozygous mutant parents, this suggests that the variant is pathogenic.

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