ClinVar Miner

Submissions for variant NM_000463.3(UGT1A1):c.1084+1G>T

dbSNP: rs587784535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147893 SCV000195384 pathogenic Hyperbilirubinemia 2014-03-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733614 SCV000861702 pathogenic not provided 2018-06-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000733614 SCV002049497 likely pathogenic not provided 2020-10-31 criteria provided, single submitter clinical testing The UGT1A1 c.1084+1G>T variant (rs587784535), to our knowledge, is not reported in the medical literature or gene specific databases, but is reported as pathogenic in ClinVar (Variation ID: 160229). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 3, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic.

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