ClinVar Miner

Submissions for variant NM_006446.5(SLCO1B1):c.481+1G>T

gnomAD frequency: 0.00934  dbSNP: rs77271279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000275027 SCV000377357 likely benign Rotor syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000275027 SCV001157072 uncertain significance Rotor syndrome 2023-05-26 criteria provided, single submitter clinical testing
OMIM RCV000275027 SCV000044682 pathogenic Rotor syndrome 2012-02-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004757993 SCV005348015 uncertain significance SLCO1B1-related disorder 2024-08-06 no assertion criteria provided clinical testing The SLCO1B1 c.481+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in both the heterozygous and compound heterozygous state with a 405 kb deletion (including exons 3-15 of SLCO1B3 and the entire SLCO1B1 gene) in unaffected members of a family with Rotor syndrome (Family A2, van de Steeg et al. 2012. PubMed ID: 22232210). Affected members of Family A2 were homozygous for the 405 kb deletion, demonstrating that only a complete deficiency of both alleles of SLCO1B1 and SLCO1B3 result in Rotor syndrome. In the gnomAD population database, this variant has been reported in 844 heterozygous and 10 homozygous individuals of unknown phenotype. In the ClinVar database, this variant has conflicting interpretations regarding its pathogenicity ranging from likely benign to pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/307938/). At this time, the clinical significance of the c.481+1G>T variant is uncertain due to the absence of conclusive functional and genetic evidence.

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