ClinVar

Description

The SLCOB3 c.290delT (p.Ile97MetfsTer14) variant results in a frameshift, and is predicted to result in premature termination of the protein. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ile97MetfsTer14 variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database. Evidence for this variant is limited. The p.Ile97MetfsTer14 variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for Rotor syndrome. Note: bi-allelic variants in both the SLCO1B1 and SLCO1B3 genes combined have been shown to cause Rotor syndrome. For an individual to be affected with Rotor syndrome, they must carry a pathogenic variant in both copies of the SLCO1B1 gene and in both copies of the SLCO1B3 gene. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.